Guest guest Posted August 28, 2004 Report Share Posted August 28, 2004 Ann-Marie and Laurie, You guys are such a big help! I didn't know about the ratios. I know for certain she did the lactic acid and ck, but not sure about the Pyruvate. Last couple times I went to see her I was so out of it...in a fog.....I just sat there while she did her exam and wrote out the blood tests. I didn't bother to write them down like I usually do, or to even ask her about them. I'll do some searching on the ratios, and then call on Monday and ask for copies of all the blood tests. Thanks again! ~Kathy~ > >> Kathy > >> > >> I can't help with a doctor as I live on the opposite side of the > > country, > >> but I was wondering if you had printed off articles from the UMDF > > web site > >> and given them to your doctors? > >> > >> laurie > >> > >>> From: " jstkathy52004 " > >>> Reply-To: > >>> Date: Fri, 27 Aug 2004 15:26:21 -0000 > >>> To: > >>> Subject: Seeking Outside Consultation > >>> > >>> Hello Folks, > >>> > >>> I'm a 51 y/o female who has been undergoing neurological > > evaluation > >>> for several months after a year of symptoms. > >>> > >>> To date, MRI (both brain and neck) are negative (Neuro was > > certain I > >>> had MS prior to these tests). All blood tests (for muscle > > disease) > >>> are negative. EMG I had this week was also negative. Sleep > > deprived > >>> EEG positve for Frontal Lobe Epilepsy. > >>> > >>> The doctor that did the EMG said he was not going to recommend a > >>> muscle biopsy and was going to consult with my neuro. > >>> > >>> Next day I get a call from the office asking me to pick up a lab > >>> slip for a blood test called Anti-GAD. I looked it up and > >>> apparently my neuro is now looking at Stiff Person Syndrome? > >>> > >>> I sense I will have to seek an outside consultation with someone > > who > >>> specializes in Mito, so I am asking if anyone on the list might > > be > >>> able to direct me accordingly. > >>> > >>> I live in Southern California, Bellflower to be exact, and about > > 30- > >>> 40 minutes outside of Los Angeles. > >>> > >>> Thanks so much. > >>> > >>> (Symtpoms for last year that wax and wane: Stiffness, Ataxia, > >>> Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling, > >>> Fasciculations) > >>> > >>> ~Kathy~ > >>> (DX to date: Type II Diabetes, Frontal Lobe Epilepsy, Interstital > >>> Cystitis, Adult son with Autism, Adult son with ADDHD/multiple > >>> learning disabilities) > >>> > >>> > >>> > >>> > >>> > >>> > >>> Medical advice, information, opinions, data and statements > > contained herein > >>> are not necessarily those of the list moderators. The author of > > this e mail is > >>> entirely responsible for its content. List members are reminded > > of their > >>> responsibility to evaluate the content of the postings and > > consult with their > >>> physicians regarding changes in their own treatment. > >>> > >>> Personal attacks are not permitted on the list and anyone who > > sends one is > >>> automatically moderated or removed depending on the severity of > > the attack. > >>> > >>> > >>> > >>> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 28, 2004 Report Share Posted August 28, 2004 I have copied and pasted information from the UMDF site that may be of some help. Initial Laboratory Evaluation Test Tissue* Comment Glucose B Electrolytes B Blood Counts B Lactate B Proper technique must be used, tourniquet must be released before blood is sampled Ammonia B Metabolic Screen B,U The metabolic screen varies between hospitals, but may include screening testing for a variety of disorders as well as urine and blood amino acid profile, and screening organic acid testing Ketones B,U Most valuable if collected at the time of an illness * B = blood, U = Urine Secondary Laboratory Evaluation Test Tissue* Comment Lactate B, CSF See above pyruvate B Proper determination of pyruvate requires the specimen be instantly deprotinized. L/P Ratio B The ratio of lactate to pyruvate can be very helpful in determine: which type of disorder may be present Amino Acids B,U, CSF Urine collections may be random or timed; and may be collected after a meal or after a fasting period, depending on the clinical situation. " Generalized aminoaciduria " may indicate the presence of a mitochondrial cytopathy, as well as other medical conditions. Organic Acids U, CSF Samples must be kept refrigerated or frozen. Different techniques, some more sensitive are used by certain laboratories. Urine collections may be random or timed, and may be collected after a fasting period. depending on the clinical situation. Carnitine Analysis B,U Most laboratories determine the free carnitine and total carnitine. Fractionation into specific acyl carnitines may be helpful in some situations. Urine collections may be random or timed, and may be collected after a fasting period, depending on the clinical situation. Ketones B,U Fractionation of ketones into b -hydroxybuterate and acetoacetate may be helpful. This test is most valuable if collected during an acute illness or after a fast. Free Fatty Acids B Mitochondrial DNA Point Mutations B If a patient fits into a specific, well-described mitochondrial phenotype, testing for specific, known point mutations may be helpful at this stage. Mitochondrial DNA Southern Blot B If a patient fits into a specific, well-described mitochondrial phenotype, Southern bolt testing may be helpful at this stage. * B = blood, U = Urine, CSF = Cerebral Spinal Fluid Tertiary Laboratory Testing Test Comment Repeat Testing Repeating some of the above listed tests, sometimes under different conditions (such as during an illness), may be helpful. Provocative Testing Under monitored conditions, usually in the hospital, repeating some of the above tests after a fast or after a specific meal or intravenous infusion, may be helpful. Skin Biopsy A skin (also known as a fibroblast) culture can be established with the skin obtained from a biopsy. This can be sent for testing electron transport chain activity, ß-oxidation disorders, as well as for a variety of other specific diseases. Mitochondrial DNA Point Mutations If a patient fits into a specific, well-described mitochondrial phenotype, testing for specific, known point mutations may be helpful at this stage. Mitochondrial DNA Southern Blot If a patient fits into a specific, well-described mitochondrial phenotype, Southern blot testing may be helpful at this stage. Coenzyme Q10 Blood Test, will be available on muscle and mitochondria in the near future Laboratory Evaluation for Disorders of Energy Metabolism Laboratory testing is the usual method physicians go about evaluating patients for disorders of energy metabolism (which include mitochondrial disorders, disorders of oxidative phosphorylation and b -oxidation). Most hospitals do not have a metabolic laboratory and therefore can run only the most basic tests. However, most hospitals will send specimens to any laboratory in the country. Not all laboratory tests are required for all patients, and your physician may decide that some of these tests are not necessary. The lists are authoritative, but are meant to serve as a general guide for evaluation. Not all metabolic disorders primarily affect energy metabolism, but the clinical features may overlap. Testing for these metabolic are listed in a separate table. There is no substitute for good clinical judgment. The initial laboratory evaluation is generally used as a non- invasive screening for inborn errors of energy metabolism. If the results of this evaluation are suggestive of a specific disorder, a direct test for the disease in question may be able to be performed. If the results of the initial evaluation are normal and there is a strong suspicion of a disorder of a mitochondrial disease, a more intensive evaluation is performed. The secondary tests are more invasive (and may include a spinal tap) and because some of the tests may require urine specimens collected over time, a bladder catheter may be required in young children. Many of these tests require the specimens to be sent to a special laboratory. Abnormalities found on the secondary tests will guide the physician as to the direction of further testing. However, as with the initial testing, normal results do no eliminate the possibility of a mitochondrial disease, but make it less likely. The tertiary tests are invasive and/ or expensive, and may carry with them some risks, such as metabolic decompensation during a fast. However, if the physician strongly suspects a metabolic illness, these tests may be diagnostic. The muscle biopsy is a tertiary test, but is listed separately because it is the most complicated and invasive of all tests, and in children requires a general anesthesia. Although a muscle biopsy can be performed at any medical center, very few centers have the ability to do all the testing necessary to make a diagnosis. Therefore, the physician must be very conscientious in planning before the biopsy is done. Muscle Biopsy Muscle tissue can be used for tests that can be diagnostic, even when the above tests are normal. Because this is the most invasive test, the risks and costs of the procedure must be weighed against the chance the biopsy will yield positive results and the benefits gained by a diagnosis (treatment decisions, family planning) .Before a muscle biopsy is done a plan needs to be arranged for how the muscle is distributed. References labs should be contacted before the biopsy is done so that preparation of the muscle is done correctly. Muscle can be sent for: * Routine light microscopy including modified Gomori Trichrome stain (checking for ragged red fibers) * Specific immunohistochemistry (cytochrome oxidase and COX subunits), succinate dehydrogenase (for ragged blue fibers), ATPase stain, lipid stains, etc. * Electron microscopy (useful to view the structure of the mitochondria, evaluate for accumulation of excessive mitochondria in the subsarcolemma region and evaluate for mitochondrial proliferation. * Electron Transport Chain Activity (spectrophotometric analysis), preferable performed on freshly isolated mitochondria from fresh muscle but can be done on frozen muscle tissue. Experts disagree on whether complex I activity can be appropriately measured in muscle mitochondria. Experts disagree on whether analysis of frozen muscle tissue is usually or ever helpful. ETC activity give a good approximation of the catalytic activity of the measured enzyme complexes but does not tell anything about mitochondrial membrane function or substrate transport. * Oxidative Phosphorylation Activity (oxygen uptake), which can determine the activity of all five complexes, state iii and state iv respiration, respiratory control ratio, integrity of the mitochondrial membranes, substrate transport, and estimate efficiency of coupling of electron transport and oxidative phosphorylation. This can be run on mitochondria isolated from fresh muscle only. Experts disagree on the sensitivity of this test (in other word it may miss some patients with true mitochondrial diseases.) * Enzyme activity for ß-oxidation disorders including the enzymes of the ß-oxidation spiral and carnitine transport. * Determination of carnitine and acyl-carnitine levels, Co-Enzyme QIO levels. Except where noted, the above excerpts were taken, with permission, from Mitochondrial Cytopathies: A Primer written by Dr. Bruce Cohen, MD jstkathy52004 wrote: >Ann-Marie and Laurie, > >You guys are such a big help! I didn't know about the ratios. I >know for certain she did the lactic acid and ck, but not sure about >the Pyruvate. Last couple times I went to see her I was so out of >it...in a fog.....I just sat there while she did her exam and wrote >out the blood tests. I didn't bother to write them down like I >usually do, or to even ask her about them. > >I'll do some searching on the ratios, and then call on Monday and >ask for copies of all the blood tests. > >Thanks again! > >~Kathy~ > > > > > >>> >>> >>>>Kathy >>>> >>>>I can't help with a doctor as I live on the opposite side of the >>>> >>>> >>>country, >>> >>> >>>>but I was wondering if you had printed off articles from the >>>> >>>> >UMDF > > >>>web site >>> >>> >>>>and given them to your doctors? >>>> >>>>laurie >>>> >>>> >>>> >>>>>From: " jstkathy52004 " >>>>>Reply-To: >>>>>Date: Fri, 27 Aug 2004 15:26:21 -0000 >>>>>To: >>>>>Subject: Seeking Outside Consultation >>>>> >>>>>Hello Folks, >>>>> >>>>>I'm a 51 y/o female who has been undergoing neurological >>>>> >>>>> >>>evaluation >>> >>> >>>>>for several months after a year of symptoms. >>>>> >>>>>To date, MRI (both brain and neck) are negative (Neuro was >>>>> >>>>> >>>certain I >>> >>> >>>>>had MS prior to these tests). All blood tests (for muscle >>>>> >>>>> >>>disease) >>> >>> >>>>>are negative. EMG I had this week was also negative. Sleep >>>>> >>>>> >>>deprived >>> >>> >>>>>EEG positve for Frontal Lobe Epilepsy. >>>>> >>>>>The doctor that did the EMG said he was not going to recommend >>>>> >>>>> >a > > >>>>>muscle biopsy and was going to consult with my neuro. >>>>> >>>>>Next day I get a call from the office asking me to pick up a >>>>> >>>>> >lab > > >>>>>slip for a blood test called Anti-GAD. I looked it up and >>>>>apparently my neuro is now looking at Stiff Person Syndrome? >>>>> >>>>>I sense I will have to seek an outside consultation with >>>>> >>>>> >someone > > >>>who >>> >>> >>>>>specializes in Mito, so I am asking if anyone on the list might >>>>> >>>>> >>>be >>> >>> >>>>>able to direct me accordingly. >>>>> >>>>>I live in Southern California, Bellflower to be exact, and >>>>> >>>>> >about > > >>>30- >>> >>> >>>>>40 minutes outside of Los Angeles. >>>>> >>>>>Thanks so much. >>>>> >>>>>(Symtpoms for last year that wax and wane: Stiffness, Ataxia, >>>>>Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling, >>>>>Fasciculations) >>>>> >>>>>~Kathy~ >>>>>(DX to date: Type II Diabetes, Frontal Lobe Epilepsy, >>>>> >>>>> >Interstital > > >>>>>Cystitis, Adult son with Autism, Adult son with ADDHD/multiple >>>>>learning disabilities) >>>>> >>>>> >>>>> >>>>> >>>>> >>>>> >>>>>Medical advice, information, opinions, data and statements >>>>> >>>>> >>>contained herein >>> >>> >>>>>are not necessarily those of the list moderators. The author of >>>>> >>>>> >>>this e mail is >>> >>> >>>>>entirely responsible for its content. List members are reminded >>>>> >>>>> >>>of their >>> >>> >>>>>responsibility to evaluate the content of the postings and >>>>> >>>>> >>>consult with their >>> >>> >>>>>physicians regarding changes in their own treatment. >>>>> >>>>>Personal attacks are not permitted on the list and anyone who >>>>> >>>>> >>>sends one is >>> >>> >>>>>automatically moderated or removed depending on the severity of >>>>> >>>>> >>>the attack. >>> >>> >>>>> >>>>> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 28, 2004 Report Share Posted August 28, 2004 Sorry, I don't know why it didn't format right. I will try again with smaller portions of the page. wrote: >I have copied and pasted information from the UMDF site that may be of >some help. > > > >Initial Laboratory Evaluation > >Test > > > >Tissue* > > > >Comment > >Glucose > > > >B > > > >Electrolytes > > > >B > > > >Blood >Counts > > > >B > > > >Lactate > > > >B > > > >Proper technique must be used, tourniquet must be released before blood >is sampled > >Ammonia > > > >B > > > >Metabolic >Screen > > > >B,U > > > >The metabolic screen varies between hospitals, but may include screening >testing for a variety of disorders as well as urine and blood amino acid >profile, and screening organic acid testing > >Ketones > > > >B,U > > > >Most valuable if collected at the time of an illness > >* B = blood, U = Urine > > > >Secondary Laboratory Evaluation > >Test > > > >Tissue* > > > >Comment > >Lactate > > > >B, >CSF > > > >See above > >pyruvate > > > >B > > > >Proper determination of pyruvate requires the specimen be instantly >deprotinized. > >L/P Ratio > > > >B > > > >The ratio of lactate to pyruvate can be very helpful in determine: which >type of disorder may be present > >Amino >Acids > > > >B,U, >CSF > > > >Urine collections may be random or timed; and may be collected after a >meal or after a fasting period, depending on the clinical situation. > " Generalized aminoaciduria " may indicate the presence of a mitochondrial >cytopathy, as well as other medical conditions. > >Organic >Acids > > > >U, >CSF > > > >Samples must be kept refrigerated or frozen. Different techniques, some >more sensitive are used by certain laboratories. Urine collections may >be random or timed, and may be collected after a fasting period. >depending on the clinical situation. > >Carnitine >Analysis > > > >B,U > > > >Most laboratories determine the free carnitine and total carnitine. >Fractionation into specific acyl carnitines may be helpful in some >situations. Urine collections may be random or timed, and may be >collected after a fasting period, depending on the clinical situation. > >Ketones > > > >B,U > > > >Fractionation of ketones into b -hydroxybuterate and acetoacetate may be >helpful. This test is most valuable if collected during an acute illness >or after a fast. > >Free Fatty >Acids > > > >B > > > >Mitochondrial >DNA Point >Mutations > > > >B > > > >If a patient fits into a specific, well-described mitochondrial >phenotype, testing for specific, known point mutations may be helpful at >this stage. > >Mitochondrial >DNA Southern >Blot > > > >B > > > >If a patient fits into a specific, well-described mitochondrial >phenotype, Southern bolt testing may be helpful at this stage. > >* B = blood, U = Urine, CSF = Cerebral Spinal Fluid > > > >Tertiary Laboratory Testing > >Test > > > >Comment > >Repeat >Testing > > > >Repeating some of the above listed tests, sometimes under different >conditions (such as during an illness), may be helpful. > >Provocative >Testing > > > >Under monitored conditions, usually in the hospital, repeating some of >the above tests after a fast or after a specific meal or intravenous >infusion, may be helpful. > >Skin >Biopsy > > > >A skin (also known as a fibroblast) culture can be established with the >skin obtained from a biopsy. This can be sent for testing electron >transport chain activity, ß-oxidation disorders, as well as for a >variety of other specific diseases. > >Mitochondrial >DNA Point >Mutations > > > >If a patient fits into a specific, well-described mitochondrial >phenotype, testing for specific, known point mutations may be helpful at >this stage. > >Mitochondrial > DNA >Southern Blot > > > >If a patient fits into a specific, well-described mitochondrial >phenotype, Southern blot testing may be helpful at this stage. > >Coenzyme >Q10 > > > >Blood Test, will be available on muscle and mitochondria in the near future > > > > >Laboratory Evaluation for Disorders of Energy Metabolism > > > > > >Laboratory testing is the usual method physicians go about evaluating >patients for disorders of energy metabolism (which include mitochondrial >disorders, disorders of oxidative phosphorylation and b -oxidation). >Most hospitals do not have a metabolic laboratory and therefore can run >only the most basic tests. However, most hospitals will send specimens >to any laboratory in the country. Not all laboratory tests are required >for all patients, and your physician may decide that some of these tests >are not necessary. The lists are authoritative, but are meant to serve >as a general guide for evaluation. Not all metabolic disorders primarily >affect energy metabolism, but the clinical features may overlap. Testing >for these metabolic are listed in a separate table. There is no >substitute for good clinical judgment. > >The initial laboratory evaluation is generally used as a non- invasive >screening for inborn errors of energy metabolism. If the results of this >evaluation are suggestive of a specific disorder, a direct test for the >disease in question may be able to be performed. If the results of the >initial evaluation are normal and there is a strong suspicion of a >disorder of a mitochondrial disease, a more intensive evaluation is >performed. > >The secondary tests are more invasive (and may include a spinal tap) and >because some of the tests may require urine specimens collected over >time, a bladder catheter may be required in young children. Many of >these tests require the specimens to be sent to a special laboratory. >Abnormalities found on the secondary tests will guide the physician as >to the direction of further testing. However, as with the initial >testing, normal results do no eliminate the possibility of a >mitochondrial disease, but make it less likely. > >The tertiary tests are invasive and/ or expensive, and may carry with >them some risks, such as metabolic decompensation during a fast. >However, if the physician strongly suspects a metabolic illness, these >tests may be diagnostic. The muscle biopsy is a tertiary test, but is >listed separately because it is the most complicated and invasive of all >tests, and in children requires a general anesthesia. Although a muscle >biopsy can be performed at any medical center, very few centers have the >ability to do all the testing necessary to make a diagnosis. Therefore, >the physician must be very conscientious in planning before the biopsy >is done. > > > > Muscle Biopsy > >Muscle tissue can be used for tests that can be diagnostic, even when >the above tests are normal. Because this is the most invasive test, the >risks and costs of the procedure must be weighed against the chance the >biopsy will yield positive results and the benefits gained by a >diagnosis (treatment decisions, family planning) .Before a muscle biopsy >is done a plan needs to be arranged for how the muscle is distributed. >References labs should be contacted before the biopsy is done so that >preparation of the muscle is done correctly. Muscle can be sent for: > > * Routine light microscopy including modified Gomori Trichrome stain > (checking for ragged red fibers) > > * Specific immunohistochemistry (cytochrome oxidase and COX > subunits), succinate dehydrogenase (for ragged blue fibers), > ATPase stain, lipid stains, etc. > > * Electron microscopy (useful to view the structure of the > mitochondria, evaluate for accumulation of excessive mitochondria > in the subsarcolemma region and evaluate for mitochondrial > proliferation. > > * Electron Transport Chain Activity (spectrophotometric analysis), > preferable performed on freshly isolated mitochondria from fresh > muscle but can be done on frozen muscle tissue. Experts disagree > on whether complex I activity can be appropriately measured in > muscle mitochondria. Experts disagree on whether analysis of > frozen muscle tissue is usually or ever helpful. ETC activity give > a good approximation of the catalytic activity of the measured > enzyme complexes but does not tell anything about mitochondrial > membrane function or substrate transport. > > * Oxidative Phosphorylation Activity (oxygen uptake), which can > determine the activity of all five complexes, state iii and state > iv respiration, respiratory control ratio, integrity of the > mitochondrial membranes, substrate transport, and estimate > efficiency of coupling of electron transport and oxidative > phosphorylation. This can be run on mitochondria isolated from > fresh muscle only. Experts disagree on the sensitivity of this > test (in other word it may miss some patients with true > mitochondrial diseases.) > > * Enzyme activity for ß-oxidation disorders including the enzymes of > the ß-oxidation spiral and carnitine transport. > > * Determination of carnitine and acyl-carnitine levels, Co-Enzyme > QIO levels. > > > > Except where noted, the above excerpts were taken, with permission, > from Mitochondrial Cytopathies: A Primer written by Dr. Bruce Cohen, MD > > > > > >jstkathy52004 wrote: > > > >>Ann-Marie and Laurie, >> >>You guys are such a big help! I didn't know about the ratios. I >>know for certain she did the lactic acid and ck, but not sure about >>the Pyruvate. Last couple times I went to see her I was so out of >>it...in a fog.....I just sat there while she did her exam and wrote >>out the blood tests. I didn't bother to write them down like I >>usually do, or to even ask her about them. >> >>I'll do some searching on the ratios, and then call on Monday and >>ask for copies of all the blood tests. >> >>Thanks again! >> >>~Kathy~ >> >> >> >> >> >>>> >>>> >>>> >>>> >>>>>Kathy >>>>> >>>>>I can't help with a doctor as I live on the opposite side of the >>>>> >>>>> >>>>> >>>>> >>>>country, >>>> >>>> >>>> >>>> >>>>>but I was wondering if you had printed off articles from the >>>>> >>>>> >>>>> >>>>> >>UMDF >> >> >> >> >>>>web site >>>> >>>> >>>> >>>> >>>>>and given them to your doctors? >>>>> >>>>>laurie >>>>> >>>>> >>>>> >>>>> >>>>> >>>>>>From: " jstkathy52004 " >>>>>>Reply-To: >>>>>>Date: Fri, 27 Aug 2004 15:26:21 -0000 >>>>>>To: >>>>>>Subject: Seeking Outside Consultation >>>>>> >>>>>>Hello Folks, >>>>>> >>>>>>I'm a 51 y/o female who has been undergoing neurological >>>>>> >>>>>> >>>>>> >>>>>> >>>>evaluation >>>> >>>> >>>> >>>> >>>>>>for several months after a year of symptoms. >>>>>> >>>>>>To date, MRI (both brain and neck) are negative (Neuro was >>>>>> >>>>>> >>>>>> >>>>>> >>>>certain I >>>> >>>> >>>> >>>> >>>>>>had MS prior to these tests). All blood tests (for muscle >>>>>> >>>>>> >>>>>> >>>>>> >>>>disease) >>>> >>>> >>>> >>>> >>>>>>are negative. EMG I had this week was also negative. Sleep >>>>>> >>>>>> >>>>>> >>>>>> >>>>deprived >>>> >>>> >>>> >>>> >>>>>>EEG positve for Frontal Lobe Epilepsy. >>>>>> >>>>>>The doctor that did the EMG said he was not going to recommend >>>>>> >>>>>> >>>>>> >>>>>> >>a >> >> >> >> >>>>>>muscle biopsy and was going to consult with my neuro. >>>>>> >>>>>>Next day I get a call from the office asking me to pick up a >>>>>> >>>>>> >>>>>> >>>>>> >>lab >> >> >> >> >>>>>>slip for a blood test called Anti-GAD. I looked it up and >>>>>>apparently my neuro is now looking at Stiff Person Syndrome? >>>>>> >>>>>>I sense I will have to seek an outside consultation with >>>>>> >>>>>> >>>>>> >>>>>> >>someone >> >> >> >> >>>>who >>>> >>>> >>>> >>>> >>>>>>specializes in Mito, so I am asking if anyone on the list might >>>>>> >>>>>> >>>>>> >>>>>> >>>>be >>>> >>>> >>>> >>>> >>>>>>able to direct me accordingly. >>>>>> >>>>>>I live in Southern California, Bellflower to be exact, and >>>>>> >>>>>> >>>>>> >>>>>> >>about >> >> >> >> >>>>30- >>>> >>>> >>>> >>>> >>>>>>40 minutes outside of Los Angeles. >>>>>> >>>>>>Thanks so much. >>>>>> >>>>>>(Symtpoms for last year that wax and wane: Stiffness, Ataxia, >>>>>>Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling, >>>>>>Fasciculations) >>>>>> >>>>>>~Kathy~ >>>>>>(DX to date: Type II Diabetes, Frontal Lobe Epilepsy, >>>>>> >>>>>> >>>>>> >>>>>> >>Interstital >> >> >> >> >>>>>>Cystitis, Adult son with Autism, Adult son with ADDHD/multiple >>>>>>learning disabilities) >>>>>> >>>>>> >>>>>> >>>>>> >>>>>> >>>>>> >>>>>>Medical advice, information, opinions, data and statements >>>>>> >>>>>> >>>>>> >>>>>> >>>>contained herein >>>> >>>> >>>> >>>> >>>>>>are not necessarily those of the list moderators. The author of >>>>>> >>>>>> >>>>>> >>>>>> >>>>this e mail is >>>> >>>> >>>> >>>> >>>>>>entirely responsible for its content. List members are reminded >>>>>> >>>>>> >>>>>> >>>>>> >>>>of their >>>> >>>> >>>> >>>> >>>>>>responsibility to evaluate the content of the postings and >>>>>> >>>>>> >>>>>> >>>>>> >>>>consult with their >>>> >>>> >>>> >>>> >>>>>>physicians regarding changes in their own treatment. >>>>>> >>>>>>Personal attacks are not permitted on the list and anyone who >>>>>> >>>>>> >>>>>> >>>>>> >>>>sends one is >>>> >>>> >>>> >>>> >>>>>>automatically moderated or removed depending on the severity of >>>>>> >>>>>> >>>>>> >>>>>> >>>>the attack. >>>> >>>> >>>> >>>> >>>>>> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 28, 2004 Report Share Posted August 28, 2004 Sorry, I don't know why it didn't format right. I will try again with smaller portions of the page. wrote: >I have copied and pasted information from the UMDF site that may be of >some help. > > > >Initial Laboratory Evaluation > >Test > > > >Tissue* > > > >Comment > >Glucose > > > >B > > > >Electrolytes > > > >B > > > >Blood >Counts > > > >B > > > >Lactate > > > >B > > > >Proper technique must be used, tourniquet must be released before blood >is sampled > >Ammonia > > > >B > > > >Metabolic >Screen > > > >B,U > > > >The metabolic screen varies between hospitals, but may include screening >testing for a variety of disorders as well as urine and blood amino acid >profile, and screening organic acid testing > >Ketones > > > >B,U > > > >Most valuable if collected at the time of an illness > >* B = blood, U = Urine > > > >Secondary Laboratory Evaluation > >Test > > > >Tissue* > > > >Comment > >Lactate > > > >B, >CSF > > > >See above > >pyruvate > > > >B > > > >Proper determination of pyruvate requires the specimen be instantly >deprotinized. > >L/P Ratio > > > >B > > > >The ratio of lactate to pyruvate can be very helpful in determine: which >type of disorder may be present > >Amino >Acids > > > >B,U, >CSF > > > >Urine collections may be random or timed; and may be collected after a >meal or after a fasting period, depending on the clinical situation. > " Generalized aminoaciduria " may indicate the presence of a mitochondrial >cytopathy, as well as other medical conditions. > >Organic >Acids > > > >U, >CSF > > > >Samples must be kept refrigerated or frozen. Different techniques, some >more sensitive are used by certain laboratories. Urine collections may >be random or timed, and may be collected after a fasting period. >depending on the clinical situation. > >Carnitine >Analysis > > > >B,U > > > >Most laboratories determine the free carnitine and total carnitine. >Fractionation into specific acyl carnitines may be helpful in some >situations. Urine collections may be random or timed, and may be >collected after a fasting period, depending on the clinical situation. > >Ketones > > > >B,U > > > >Fractionation of ketones into b -hydroxybuterate and acetoacetate may be >helpful. This test is most valuable if collected during an acute illness >or after a fast. > >Free Fatty >Acids > > > >B > > > >Mitochondrial >DNA Point >Mutations > > > >B > > > >If a patient fits into a specific, well-described mitochondrial >phenotype, testing for specific, known point mutations may be helpful at >this stage. > >Mitochondrial >DNA Southern >Blot > > > >B > > > >If a patient fits into a specific, well-described mitochondrial >phenotype, Southern bolt testing may be helpful at this stage. > >* B = blood, U = Urine, CSF = Cerebral Spinal Fluid > > > >Tertiary Laboratory Testing > >Test > > > >Comment > >Repeat >Testing > > > >Repeating some of the above listed tests, sometimes under different >conditions (such as during an illness), may be helpful. > >Provocative >Testing > > > >Under monitored conditions, usually in the hospital, repeating some of >the above tests after a fast or after a specific meal or intravenous >infusion, may be helpful. > >Skin >Biopsy > > > >A skin (also known as a fibroblast) culture can be established with the >skin obtained from a biopsy. This can be sent for testing electron >transport chain activity, ß-oxidation disorders, as well as for a >variety of other specific diseases. > >Mitochondrial >DNA Point >Mutations > > > >If a patient fits into a specific, well-described mitochondrial >phenotype, testing for specific, known point mutations may be helpful at >this stage. > >Mitochondrial > DNA >Southern Blot > > > >If a patient fits into a specific, well-described mitochondrial >phenotype, Southern blot testing may be helpful at this stage. > >Coenzyme >Q10 > > > >Blood Test, will be available on muscle and mitochondria in the near future > > > > >Laboratory Evaluation for Disorders of Energy Metabolism > > > > > >Laboratory testing is the usual method physicians go about evaluating >patients for disorders of energy metabolism (which include mitochondrial >disorders, disorders of oxidative phosphorylation and b -oxidation). >Most hospitals do not have a metabolic laboratory and therefore can run >only the most basic tests. However, most hospitals will send specimens >to any laboratory in the country. Not all laboratory tests are required >for all patients, and your physician may decide that some of these tests >are not necessary. The lists are authoritative, but are meant to serve >as a general guide for evaluation. Not all metabolic disorders primarily >affect energy metabolism, but the clinical features may overlap. Testing >for these metabolic are listed in a separate table. There is no >substitute for good clinical judgment. > >The initial laboratory evaluation is generally used as a non- invasive >screening for inborn errors of energy metabolism. If the results of this >evaluation are suggestive of a specific disorder, a direct test for the >disease in question may be able to be performed. If the results of the >initial evaluation are normal and there is a strong suspicion of a >disorder of a mitochondrial disease, a more intensive evaluation is >performed. > >The secondary tests are more invasive (and may include a spinal tap) and >because some of the tests may require urine specimens collected over >time, a bladder catheter may be required in young children. Many of >these tests require the specimens to be sent to a special laboratory. >Abnormalities found on the secondary tests will guide the physician as >to the direction of further testing. However, as with the initial >testing, normal results do no eliminate the possibility of a >mitochondrial disease, but make it less likely. > >The tertiary tests are invasive and/ or expensive, and may carry with >them some risks, such as metabolic decompensation during a fast. >However, if the physician strongly suspects a metabolic illness, these >tests may be diagnostic. The muscle biopsy is a tertiary test, but is >listed separately because it is the most complicated and invasive of all >tests, and in children requires a general anesthesia. Although a muscle >biopsy can be performed at any medical center, very few centers have the >ability to do all the testing necessary to make a diagnosis. Therefore, >the physician must be very conscientious in planning before the biopsy >is done. > > > > Muscle Biopsy > >Muscle tissue can be used for tests that can be diagnostic, even when >the above tests are normal. Because this is the most invasive test, the >risks and costs of the procedure must be weighed against the chance the >biopsy will yield positive results and the benefits gained by a >diagnosis (treatment decisions, family planning) .Before a muscle biopsy >is done a plan needs to be arranged for how the muscle is distributed. >References labs should be contacted before the biopsy is done so that >preparation of the muscle is done correctly. Muscle can be sent for: > > * Routine light microscopy including modified Gomori Trichrome stain > (checking for ragged red fibers) > > * Specific immunohistochemistry (cytochrome oxidase and COX > subunits), succinate dehydrogenase (for ragged blue fibers), > ATPase stain, lipid stains, etc. > > * Electron microscopy (useful to view the structure of the > mitochondria, evaluate for accumulation of excessive mitochondria > in the subsarcolemma region and evaluate for mitochondrial > proliferation. > > * Electron Transport Chain Activity (spectrophotometric analysis), > preferable performed on freshly isolated mitochondria from fresh > muscle but can be done on frozen muscle tissue. Experts disagree > on whether complex I activity can be appropriately measured in > muscle mitochondria. Experts disagree on whether analysis of > frozen muscle tissue is usually or ever helpful. ETC activity give > a good approximation of the catalytic activity of the measured > enzyme complexes but does not tell anything about mitochondrial > membrane function or substrate transport. > > * Oxidative Phosphorylation Activity (oxygen uptake), which can > determine the activity of all five complexes, state iii and state > iv respiration, respiratory control ratio, integrity of the > mitochondrial membranes, substrate transport, and estimate > efficiency of coupling of electron transport and oxidative > phosphorylation. This can be run on mitochondria isolated from > fresh muscle only. Experts disagree on the sensitivity of this > test (in other word it may miss some patients with true > mitochondrial diseases.) > > * Enzyme activity for ß-oxidation disorders including the enzymes of > the ß-oxidation spiral and carnitine transport. > > * Determination of carnitine and acyl-carnitine levels, Co-Enzyme > QIO levels. > > > > Except where noted, the above excerpts were taken, with permission, > from Mitochondrial Cytopathies: A Primer written by Dr. Bruce Cohen, MD > > > > > >jstkathy52004 wrote: > > > >>Ann-Marie and Laurie, >> >>You guys are such a big help! I didn't know about the ratios. I >>know for certain she did the lactic acid and ck, but not sure about >>the Pyruvate. Last couple times I went to see her I was so out of >>it...in a fog.....I just sat there while she did her exam and wrote >>out the blood tests. I didn't bother to write them down like I >>usually do, or to even ask her about them. >> >>I'll do some searching on the ratios, and then call on Monday and >>ask for copies of all the blood tests. >> >>Thanks again! >> >>~Kathy~ >> >> >> >> >> >>>> >>>> >>>> >>>> >>>>>Kathy >>>>> >>>>>I can't help with a doctor as I live on the opposite side of the >>>>> >>>>> >>>>> >>>>> >>>>country, >>>> >>>> >>>> >>>> >>>>>but I was wondering if you had printed off articles from the >>>>> >>>>> >>>>> >>>>> >>UMDF >> >> >> >> >>>>web site >>>> >>>> >>>> >>>> >>>>>and given them to your doctors? >>>>> >>>>>laurie >>>>> >>>>> >>>>> >>>>> >>>>> >>>>>>From: " jstkathy52004 " >>>>>>Reply-To: >>>>>>Date: Fri, 27 Aug 2004 15:26:21 -0000 >>>>>>To: >>>>>>Subject: Seeking Outside Consultation >>>>>> >>>>>>Hello Folks, >>>>>> >>>>>>I'm a 51 y/o female who has been undergoing neurological >>>>>> >>>>>> >>>>>> >>>>>> >>>>evaluation >>>> >>>> >>>> >>>> >>>>>>for several months after a year of symptoms. >>>>>> >>>>>>To date, MRI (both brain and neck) are negative (Neuro was >>>>>> >>>>>> >>>>>> >>>>>> >>>>certain I >>>> >>>> >>>> >>>> >>>>>>had MS prior to these tests). All blood tests (for muscle >>>>>> >>>>>> >>>>>> >>>>>> >>>>disease) >>>> >>>> >>>> >>>> >>>>>>are negative. EMG I had this week was also negative. Sleep >>>>>> >>>>>> >>>>>> >>>>>> >>>>deprived >>>> >>>> >>>> >>>> >>>>>>EEG positve for Frontal Lobe Epilepsy. >>>>>> >>>>>>The doctor that did the EMG said he was not going to recommend >>>>>> >>>>>> >>>>>> >>>>>> >>a >> >> >> >> >>>>>>muscle biopsy and was going to consult with my neuro. >>>>>> >>>>>>Next day I get a call from the office asking me to pick up a >>>>>> >>>>>> >>>>>> >>>>>> >>lab >> >> >> >> >>>>>>slip for a blood test called Anti-GAD. I looked it up and >>>>>>apparently my neuro is now looking at Stiff Person Syndrome? >>>>>> >>>>>>I sense I will have to seek an outside consultation with >>>>>> >>>>>> >>>>>> >>>>>> >>someone >> >> >> >> >>>>who >>>> >>>> >>>> >>>> >>>>>>specializes in Mito, so I am asking if anyone on the list might >>>>>> >>>>>> >>>>>> >>>>>> >>>>be >>>> >>>> >>>> >>>> >>>>>>able to direct me accordingly. >>>>>> >>>>>>I live in Southern California, Bellflower to be exact, and >>>>>> >>>>>> >>>>>> >>>>>> >>about >> >> >> >> >>>>30- >>>> >>>> >>>> >>>> >>>>>>40 minutes outside of Los Angeles. >>>>>> >>>>>>Thanks so much. >>>>>> >>>>>>(Symtpoms for last year that wax and wane: Stiffness, Ataxia, >>>>>>Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling, >>>>>>Fasciculations) >>>>>> >>>>>>~Kathy~ >>>>>>(DX to date: Type II Diabetes, Frontal Lobe Epilepsy, >>>>>> >>>>>> >>>>>> >>>>>> >>Interstital >> >> >> >> >>>>>>Cystitis, Adult son with Autism, Adult son with ADDHD/multiple >>>>>>learning disabilities) >>>>>> >>>>>> >>>>>> >>>>>> >>>>>> >>>>>> >>>>>>Medical advice, information, opinions, data and statements >>>>>> >>>>>> >>>>>> >>>>>> >>>>contained herein >>>> >>>> >>>> >>>> >>>>>>are not necessarily those of the list moderators. The author of >>>>>> >>>>>> >>>>>> >>>>>> >>>>this e mail is >>>> >>>> >>>> >>>> >>>>>>entirely responsible for its content. List members are reminded >>>>>> >>>>>> >>>>>> >>>>>> >>>>of their >>>> >>>> >>>> >>>> >>>>>>responsibility to evaluate the content of the postings and >>>>>> >>>>>> >>>>>> >>>>>> >>>>consult with their >>>> >>>> >>>> >>>> >>>>>>physicians regarding changes in their own treatment. >>>>>> >>>>>>Personal attacks are not permitted on the list and anyone who >>>>>> >>>>>> >>>>>> >>>>>> >>>>sends one is >>>> >>>> >>>> >>>> >>>>>>automatically moderated or removed depending on the severity of >>>>>> >>>>>> >>>>>> >>>>>> >>>>the attack. >>>> >>>> >>>> >>>> >>>>>> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 28, 2004 Report Share Posted August 28, 2004 Kathy You might want to take another person along when you can. and I do that and between us, we can usually remember things. We also try to write things down for each other. laurie > > Reply-To: > Date: Sat, 28 Aug 2004 19:00:38 -0000 > To: > Subject: Re: Lactic Acid and Pyruvate Ratios > > > Ann-Marie and Laurie, > > You guys are such a big help! I didn't know about the ratios. I > know for certain she did the lactic acid and ck, but not sure about > the Pyruvate. Last couple times I went to see her I was so out of > it...in a fog.....I just sat there while she did her exam and wrote > out the blood tests. I didn't bother to write them down like I > usually do, or to even ask her about them. > > I'll do some searching on the ratios, and then call on Monday and > ask for copies of all the blood tests. > > Thanks again! > > ~Kathy~ > > > > > >>>> Kathy >>>> >>>> I can't help with a doctor as I live on the opposite side of the >>> country, >>>> but I was wondering if you had printed off articles from the > UMDF >>> web site >>>> and given them to your doctors? >>>> >>>> laurie >>>> >>>>> From: " jstkathy52004 " >>>>> Reply-To: >>>>> Date: Fri, 27 Aug 2004 15:26:21 -0000 >>>>> To: >>>>> Subject: Seeking Outside Consultation >>>>> >>>>> Hello Folks, >>>>> >>>>> I'm a 51 y/o female who has been undergoing neurological >>> evaluation >>>>> for several months after a year of symptoms. >>>>> >>>>> To date, MRI (both brain and neck) are negative (Neuro was >>> certain I >>>>> had MS prior to these tests). All blood tests (for muscle >>> disease) >>>>> are negative. EMG I had this week was also negative. Sleep >>> deprived >>>>> EEG positve for Frontal Lobe Epilepsy. >>>>> >>>>> The doctor that did the EMG said he was not going to recommend > a >>>>> muscle biopsy and was going to consult with my neuro. >>>>> >>>>> Next day I get a call from the office asking me to pick up a > lab >>>>> slip for a blood test called Anti-GAD. I looked it up and >>>>> apparently my neuro is now looking at Stiff Person Syndrome? >>>>> >>>>> I sense I will have to seek an outside consultation with > someone >>> who >>>>> specializes in Mito, so I am asking if anyone on the list might >>> be >>>>> able to direct me accordingly. >>>>> >>>>> I live in Southern California, Bellflower to be exact, and > about >>> 30- >>>>> 40 minutes outside of Los Angeles. >>>>> >>>>> Thanks so much. >>>>> >>>>> (Symtpoms for last year that wax and wane: Stiffness, Ataxia, >>>>> Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling, >>>>> Fasciculations) >>>>> >>>>> ~Kathy~ >>>>> (DX to date: Type II Diabetes, Frontal Lobe Epilepsy, > Interstital >>>>> Cystitis, Adult son with Autism, Adult son with ADDHD/multiple >>>>> learning disabilities) >>>>> >>>>> >>>>> >>>>> >>>>> >>>>> >>>>> Medical advice, information, opinions, data and statements >>> contained herein >>>>> are not necessarily those of the list moderators. The author of >>> this e mail is >>>>> entirely responsible for its content. List members are reminded >>> of their >>>>> responsibility to evaluate the content of the postings and >>> consult with their >>>>> physicians regarding changes in their own treatment. >>>>> >>>>> Personal attacks are not permitted on the list and anyone who >>> sends one is >>>>> automatically moderated or removed depending on the severity of >>> the attack. >>>>> >>>>> >>>>> >>>>> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 28, 2004 Report Share Posted August 28, 2004 Thank you , I cut and pasted the information to take into my doc. Thank you, thank you. ~Kathy~ > >>> > >>> > >>>>Kathy > >>>> > >>>>I can't help with a doctor as I live on the opposite side of the > >>>> > >>>> > >>>country, > >>> > >>> > >>>>but I was wondering if you had printed off articles from the > >>>> > >>>> > >UMDF > > > > > >>>web site > >>> > >>> > >>>>and given them to your doctors? > >>>> > >>>>laurie > >>>> > >>>> > >>>> > >>>>>From: " jstkathy52004 " > >>>>>Reply-To: > >>>>>Date: Fri, 27 Aug 2004 15:26:21 -0000 > >>>>>To: > >>>>>Subject: Seeking Outside Consultation > >>>>> > >>>>>Hello Folks, > >>>>> > >>>>>I'm a 51 y/o female who has been undergoing neurological > >>>>> > >>>>> > >>>evaluation > >>> > >>> > >>>>>for several months after a year of symptoms. > >>>>> > >>>>>To date, MRI (both brain and neck) are negative (Neuro was > >>>>> > >>>>> > >>>certain I > >>> > >>> > >>>>>had MS prior to these tests). All blood tests (for muscle > >>>>> > >>>>> > >>>disease) > >>> > >>> > >>>>>are negative. EMG I had this week was also negative. Sleep > >>>>> > >>>>> > >>>deprived > >>> > >>> > >>>>>EEG positve for Frontal Lobe Epilepsy. > >>>>> > >>>>>The doctor that did the EMG said he was not going to recommend > >>>>> > >>>>> > >a > > > > > >>>>>muscle biopsy and was going to consult with my neuro. > >>>>> > >>>>>Next day I get a call from the office asking me to pick up a > >>>>> > >>>>> > >lab > > > > > >>>>>slip for a blood test called Anti-GAD. I looked it up and > >>>>>apparently my neuro is now looking at Stiff Person Syndrome? > >>>>> > >>>>>I sense I will have to seek an outside consultation with > >>>>> > >>>>> > >someone > > > > > >>>who > >>> > >>> > >>>>>specializes in Mito, so I am asking if anyone on the list might > >>>>> > >>>>> > >>>be > >>> > >>> > >>>>>able to direct me accordingly. > >>>>> > >>>>>I live in Southern California, Bellflower to be exact, and > >>>>> > >>>>> > >about > > > > > >>>30- > >>> > >>> > >>>>>40 minutes outside of Los Angeles. > >>>>> > >>>>>Thanks so much. > >>>>> > >>>>>(Symtpoms for last year that wax and wane: Stiffness, Ataxia, > >>>>>Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling, > >>>>>Fasciculations) > >>>>> > >>>>>~Kathy~ > >>>>>(DX to date: Type II Diabetes, Frontal Lobe Epilepsy, > >>>>> > >>>>> > >Interstital > > > > > >>>>>Cystitis, Adult son with Autism, Adult son with ADDHD/multiple > >>>>>learning disabilities) > >>>>> > >>>>> > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>Medical advice, information, opinions, data and statements > >>>>> > >>>>> > >>>contained herein > >>> > >>> > >>>>>are not necessarily those of the list moderators. The author of > >>>>> > >>>>> > >>>this e mail is > >>> > >>> > >>>>>entirely responsible for its content. List members are reminded > >>>>> > >>>>> > >>>of their > >>> > >>> > >>>>>responsibility to evaluate the content of the postings and > >>>>> > >>>>> > >>>consult with their > >>> > >>> > >>>>>physicians regarding changes in their own treatment. > >>>>> > >>>>>Personal attacks are not permitted on the list and anyone who > >>>>> > >>>>> > >>>sends one is > >>> > >>> > >>>>>automatically moderated or removed depending on the severity of > >>>>> > >>>>> > >>>the attack. > >>> > >>> > >>>>> > >>>>> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 28, 2004 Report Share Posted August 28, 2004 Thank you , I cut and pasted the information to take into my doc. Thank you, thank you. ~Kathy~ > >>> > >>> > >>>>Kathy > >>>> > >>>>I can't help with a doctor as I live on the opposite side of the > >>>> > >>>> > >>>country, > >>> > >>> > >>>>but I was wondering if you had printed off articles from the > >>>> > >>>> > >UMDF > > > > > >>>web site > >>> > >>> > >>>>and given them to your doctors? > >>>> > >>>>laurie > >>>> > >>>> > >>>> > >>>>>From: " jstkathy52004 " > >>>>>Reply-To: > >>>>>Date: Fri, 27 Aug 2004 15:26:21 -0000 > >>>>>To: > >>>>>Subject: Seeking Outside Consultation > >>>>> > >>>>>Hello Folks, > >>>>> > >>>>>I'm a 51 y/o female who has been undergoing neurological > >>>>> > >>>>> > >>>evaluation > >>> > >>> > >>>>>for several months after a year of symptoms. > >>>>> > >>>>>To date, MRI (both brain and neck) are negative (Neuro was > >>>>> > >>>>> > >>>certain I > >>> > >>> > >>>>>had MS prior to these tests). All blood tests (for muscle > >>>>> > >>>>> > >>>disease) > >>> > >>> > >>>>>are negative. EMG I had this week was also negative. Sleep > >>>>> > >>>>> > >>>deprived > >>> > >>> > >>>>>EEG positve for Frontal Lobe Epilepsy. > >>>>> > >>>>>The doctor that did the EMG said he was not going to recommend > >>>>> > >>>>> > >a > > > > > >>>>>muscle biopsy and was going to consult with my neuro. > >>>>> > >>>>>Next day I get a call from the office asking me to pick up a > >>>>> > >>>>> > >lab > > > > > >>>>>slip for a blood test called Anti-GAD. I looked it up and > >>>>>apparently my neuro is now looking at Stiff Person Syndrome? > >>>>> > >>>>>I sense I will have to seek an outside consultation with > >>>>> > >>>>> > >someone > > > > > >>>who > >>> > >>> > >>>>>specializes in Mito, so I am asking if anyone on the list might > >>>>> > >>>>> > >>>be > >>> > >>> > >>>>>able to direct me accordingly. > >>>>> > >>>>>I live in Southern California, Bellflower to be exact, and > >>>>> > >>>>> > >about > > > > > >>>30- > >>> > >>> > >>>>>40 minutes outside of Los Angeles. > >>>>> > >>>>>Thanks so much. > >>>>> > >>>>>(Symtpoms for last year that wax and wane: Stiffness, Ataxia, > >>>>>Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling, > >>>>>Fasciculations) > >>>>> > >>>>>~Kathy~ > >>>>>(DX to date: Type II Diabetes, Frontal Lobe Epilepsy, > >>>>> > >>>>> > >Interstital > > > > > >>>>>Cystitis, Adult son with Autism, Adult son with ADDHD/multiple > >>>>>learning disabilities) > >>>>> > >>>>> > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>Medical advice, information, opinions, data and statements > >>>>> > >>>>> > >>>contained herein > >>> > >>> > >>>>>are not necessarily those of the list moderators. The author of > >>>>> > >>>>> > >>>this e mail is > >>> > >>> > >>>>>entirely responsible for its content. List members are reminded > >>>>> > >>>>> > >>>of their > >>> > >>> > >>>>>responsibility to evaluate the content of the postings and > >>>>> > >>>>> > >>>consult with their > >>> > >>> > >>>>>physicians regarding changes in their own treatment. > >>>>> > >>>>>Personal attacks are not permitted on the list and anyone who > >>>>> > >>>>> > >>>sends one is > >>> > >>> > >>>>>automatically moderated or removed depending on the severity of > >>>>> > >>>>> > >>>the attack. > >>> > >>> > >>>>> > >>>>> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 28, 2004 Report Share Posted August 28, 2004 You are welcome. We are here to share and understand. jstkathy52004 wrote: >Thank you , > >I cut and pasted the information to take into my doc. > >Thank you, thank you. > >~Kathy~ > > > >>>>> >>>>> >>>>> >>>>> >>>>>>Kathy >>>>>> >>>>>>I can't help with a doctor as I live on the opposite side of >>>>>> >>>>>> >the > > >>>>>> >>>>>> >>>>>> >>>>>> >>>>>country, >>>>> >>>>> >>>>> >>>>> >>>>>>but I was wondering if you had printed off articles from the >>>>>> >>>>>> >>>>>> >>>>>> >>>UMDF >>> >>> >>> >>> >>>>>web site >>>>> >>>>> >>>>> >>>>> >>>>>>and given them to your doctors? >>>>>> >>>>>>laurie >>>>>> >>>>>> >>>>>> >>>>>> >>>>>> >>>>>>>From: " jstkathy52004 " >>>>>>>Reply-To: >>>>>>>Date: Fri, 27 Aug 2004 15:26:21 -0000 >>>>>>>To: >>>>>>>Subject: Seeking Outside Consultation >>>>>>> >>>>>>>Hello Folks, >>>>>>> >>>>>>>I'm a 51 y/o female who has been undergoing neurological >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>>>evaluation >>>>> >>>>> >>>>> >>>>> >>>>>>>for several months after a year of symptoms. >>>>>>> >>>>>>>To date, MRI (both brain and neck) are negative (Neuro was >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>>>certain I >>>>> >>>>> >>>>> >>>>> >>>>>>>had MS prior to these tests). All blood tests (for muscle >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>>>disease) >>>>> >>>>> >>>>> >>>>> >>>>>>>are negative. EMG I had this week was also negative. Sleep >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>>>deprived >>>>> >>>>> >>>>> >>>>> >>>>>>>EEG positve for Frontal Lobe Epilepsy. >>>>>>> >>>>>>>The doctor that did the EMG said he was not going to >>>>>>> >>>>>>> >recommend > > >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>a >>> >>> >>> >>> >>>>>>>muscle biopsy and was going to consult with my neuro. >>>>>>> >>>>>>>Next day I get a call from the office asking me to pick up a >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>lab >>> >>> >>> >>> >>>>>>>slip for a blood test called Anti-GAD. I looked it up and >>>>>>>apparently my neuro is now looking at Stiff Person Syndrome? >>>>>>> >>>>>>>I sense I will have to seek an outside consultation with >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>someone >>> >>> >>> >>> >>>>>who >>>>> >>>>> >>>>> >>>>> >>>>>>>specializes in Mito, so I am asking if anyone on the list >>>>>>> >>>>>>> >might > > >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>>>be >>>>> >>>>> >>>>> >>>>> >>>>>>>able to direct me accordingly. >>>>>>> >>>>>>>I live in Southern California, Bellflower to be exact, and >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>about >>> >>> >>> >>> >>>>>30- >>>>> >>>>> >>>>> >>>>> >>>>>>>40 minutes outside of Los Angeles. >>>>>>> >>>>>>>Thanks so much. >>>>>>> >>>>>>>(Symtpoms for last year that wax and wane: Stiffness, Ataxia, >>>>>>>Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling, >>>>>>>Fasciculations) >>>>>>> >>>>>>>~Kathy~ >>>>>>>(DX to date: Type II Diabetes, Frontal Lobe Epilepsy, >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>Interstital >>> >>> >>> >>> >>>>>>>Cystitis, Adult son with Autism, Adult son with ADDHD/multiple >>>>>>>learning disabilities) >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>>>>>Medical advice, information, opinions, data and statements >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>>>contained herein >>>>> >>>>> >>>>> >>>>> >>>>>>>are not necessarily those of the list moderators. The author >>>>>>> >>>>>>> >of > > >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>>>this e mail is >>>>> >>>>> >>>>> >>>>> >>>>>>>entirely responsible for its content. List members are >>>>>>> >>>>>>> >reminded > > >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>>>of their >>>>> >>>>> >>>>> >>>>> >>>>>>>responsibility to evaluate the content of the postings and >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>>>consult with their >>>>> >>>>> >>>>> >>>>> >>>>>>>physicians regarding changes in their own treatment. >>>>>>> >>>>>>>Personal attacks are not permitted on the list and anyone who >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>>>sends one is >>>>> >>>>> >>>>> >>>>> >>>>>>>automatically moderated or removed depending on the severity >>>>>>> >>>>>>> >of > > >>>>>>> >>>>>>> >>>>>>> >>>>>>> >>>>>the attack. >>>>> >>>>> >>>>> >>>>> >>>>>>> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 28, 2004 Report Share Posted August 28, 2004 My lactate has been normal most of the time, but the ratio of lactate to pyruvate has only been normal once out of four years of tests (what a good day!). When I first had the test done (correctly, it took 5 tries for the hospital to get it right), my lactate/pyruvate ratio was 120, and that was the only abnormal lab test I had. Since then, I've had an abnormal MR SPECT, and my fresh muscle biopsy confirmed the mitochondrial disease, a Complex I defect (no activity in Complex I). My brain MRIs have all been perfectly fine, although I am due Lactate/pyruvate ratio in blood was really the only test that told us we were on the right track with a mito diagnosis, I hope it helps you out too. Take care, RH > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>>Kathy > >>>>>> > >>>>>>I can't help with a doctor as I live on the opposite side of > >>>>>> > >>>>>> > >the > > > > > >>>>>> > >>>>>> > >>>>>> > >>>>>> > >>>>>country, > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>>but I was wondering if you had printed off articles from the > >>>>>> > >>>>>> > >>>>>> > >>>>>> > >>>UMDF > >>> > >>> > >>> > >>> > >>>>>web site > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>>and given them to your doctors? > >>>>>> > >>>>>>laurie > >>>>>> > >>>>>> > >>>>>> > >>>>>> > >>>>>> > >>>>>>>From: " jstkathy52004 " > >>>>>>>Reply-To: > >>>>>>>Date: Fri, 27 Aug 2004 15:26:21 -0000 > >>>>>>>To: > >>>>>>>Subject: Seeking Outside Consultation > >>>>>>> > >>>>>>>Hello Folks, > >>>>>>> > >>>>>>>I'm a 51 y/o female who has been undergoing neurological > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>evaluation > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>>>for several months after a year of symptoms. > >>>>>>> > >>>>>>>To date, MRI (both brain and neck) are negative (Neuro was > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>certain I > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>>>had MS prior to these tests). All blood tests (for muscle > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>disease) > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>>>are negative. EMG I had this week was also negative. Sleep > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>deprived > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>>>EEG positve for Frontal Lobe Epilepsy. > >>>>>>> > >>>>>>>The doctor that did the EMG said he was not going to > >>>>>>> > >>>>>>> > >recommend > > > > > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>a > >>> > >>> > >>> > >>> > >>>>>>>muscle biopsy and was going to consult with my neuro. > >>>>>>> > >>>>>>>Next day I get a call from the office asking me to pick up a > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>lab > >>> > >>> > >>> > >>> > >>>>>>>slip for a blood test called Anti-GAD. I looked it up and > >>>>>>>apparently my neuro is now looking at Stiff Person Syndrome? > >>>>>>> > >>>>>>>I sense I will have to seek an outside consultation with > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>someone > >>> > >>> > >>> > >>> > >>>>>who > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>>>specializes in Mito, so I am asking if anyone on the list > >>>>>>> > >>>>>>> > >might > > > > > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>be > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>>>able to direct me accordingly. > >>>>>>> > >>>>>>>I live in Southern California, Bellflower to be exact, and > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>about > >>> > >>> > >>> > >>> > >>>>>30- > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>>>40 minutes outside of Los Angeles. > >>>>>>> > >>>>>>>Thanks so much. > >>>>>>> > >>>>>>>(Symtpoms for last year that wax and wane: Stiffness, Ataxia, > >>>>>>>Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling, > >>>>>>>Fasciculations) > >>>>>>> > >>>>>>>~Kathy~ > >>>>>>>(DX to date: Type II Diabetes, Frontal Lobe Epilepsy, > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>Interstital > >>> > >>> > >>> > >>> > >>>>>>>Cystitis, Adult son with Autism, Adult son with ADDHD/multiple > >>>>>>>learning disabilities) > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>>Medical advice, information, opinions, data and statements > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>contained herein > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>>>are not necessarily those of the list moderators. The author > >>>>>>> > >>>>>>> > >of > > > > > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>this e mail is > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>>>entirely responsible for its content. List members are > >>>>>>> > >>>>>>> > >reminded > > > > > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>of their > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>>>responsibility to evaluate the content of the postings and > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>consult with their > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>>>physicians regarding changes in their own treatment. > >>>>>>> > >>>>>>>Personal attacks are not permitted on the list and anyone who > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>sends one is > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>>>automatically moderated or removed depending on the severity > >>>>>>> > >>>>>>> > >of > > > > > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>>> > >>>>>the attack. > >>>>> > >>>>> > >>>>> > >>>>> > >>>>>>> Quote Link to comment Share on other sites More sharing options...
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