Guest guest Posted January 25, 2004 Report Share Posted January 25, 2004 Thanks ! > For those of you new to or new on the path to dx, I thought I > would copy and paste some info from the UMDF website that may be helpful. > > > > Evaluation of a Patient with a Suspected Mitochondrial Disease > > * History > * Physical Exam > * Lactate, pyruvate (blood; ±CSF) > * Amino Acids (serum, urine; ±CSF) > * Organic Acids (urine) > * Carnitine & Acyl Carnitine > * Audiogram > * ECG > * Eye exam > * Blood for mtDNA (if you know what you are looking for... search > and detect missions blindly have less of a chance in finding the > mutation) > * Blood for nuclear DNA (limited availability, only a few defects > have been identified) > * Muscle for mtDNA (same as above) > * Muscle of OXPHOX analysis (spectrophotometry or polarography) > * Muscle of immunologic staining of mtCOX subunits and nCOX subunits > * Fibroblast Culture for OXPHOS analysis > > ------------------------------------------------------------------- ----- > > Catastrophic Presentations of Metabolic Disease in the Newborn > > * Nonspecific findings may mimic shock, sepsis or SIDS > * Lethargy, irritability, hyperactivity > * Failure to feed well > * Hypothermia or fevers (fevers due to viral illnesses and those in > which no cause is discovered) > * Cyanosis > * Seizures > * Vomiting > * RTA > * Jaundice (early and/or prolonged) > * Diarrhea or abdominal bloating > > ------------------------------------------------------------------- ----- > > Brief Differential Diagnosis > > * Organic acidemias: MSUD, propionic, isovaleric, methylmalonic, others > * Urea acid cycle defects: carbamyl phosphate synthetase deficiency, > OTC, citrullinemia, argininosuccinic aciduria > * Carbohydrate disorders: galactosemia, hereditary fructose intolerance > * Aminoacidopathies: homocystinuria, tyrosinemia, nonketotic > hyperglycinemia > * Endocrinopathies: " CAR, congenital diabetes " > * OXPHOS disorders > * Prader-Willi, Angelman syndrome, Rett syndrome > > ------------------------------------------------------------------- ----- > > Exam of the Infant > > * Odor > * Neurologic: tone, level of alertness, deep tendon reflexes > * General: dysmorphic features, large liver or spleen > > ------------------------------------------------------------------- ----- > > Lab Evaluation > > * Glucose, glucose, glucose (pre- and post-parandial) > * Electrolytes, calculate anion gap > * CBC (neutropenia, thrombocytopenia and anemia are often seen in > organic acid disorders and in some OXPHOS disorders) > * BUN (low BUN indicates failure of urea acid cycle, either primary > or secondary) > * Lactate, pyruvate, and L/P ratio > * Raised Lactate with L/P 10-20 indicates a disorder of pyruvate > metabolism such as PDH deficiency > * Raised Lactate with L/P of > 20 indicates a disorder of oxidative > phosphorylation > * Ammonia (elevated; seen in urea acid cycle disorders, organic acid > disorders) > * Creatine Kinase (CK); often mildly elevated with muscle involvement > * Biotinidase level (ataxia, seizures, rash after 6 months of life) > * VLCFA (neonatal peroxisomal disorders) > * Amino Acids (blood and urine) > * Organic Acids (quantitative; post-parandial and fasting if deemed > safe) > * Acyl-carnitines (blood and urine) > * Skin biopsy for EM and fibroblast culture > * Muscle biopsy > > ------------------------------------------------------------------- ----- > > Presentations of Mitochondrial Disease in Adults > > * As varied as in children, more complicated to diagnosis because > adults have acquired other diseases along their years. > Mitochondrial diseases tend not to present as catastrophic events. > * Childhood onset mitochondrial diseases that become increasingly > obvious as the person ages > * Muscle: new muscle weakness, cramping, fatigue > * Brain: migraine, stroke or stroke-like events, dementia, MS- like > presentation > * Endocrine: diabetes (~5% of DM may be due to the mtDNA 3243 mutation) > * Cardiac: early cardiomyopathy, cardiac conduction defects > (association of LHON with WPW, etc) > * Systemic: CFS-like illness > > ------------------------------------------------------------------- ----- > > Most Adults Require Thinking About this Brief Differential Diagnosis: > > * Primary endocrine disease > * Vitamin deficiency: B12 > * Homocystinuria and associated disorders > * Primary muscle disease: polymyositis, dystrophin associated > glycoprotein muscular dystrophies > * Chronic fatigue syndrome > * Autoimmune disorders > * Glycogen storage disorders > * Depression and related psychosomatic disorders > * Other neurodegenerative disorders (MS, ALS, HD, combined systems > degeneration) > > ------------------------------------------------------------------- ----- > > Problems Associated with Mitochondrial Cytopathies > > Organ System > > > > Possible Problems > > Brain > > > > Developmental delays, mental retardation, dementia, seizures, > neuro-psychiatric disturbances, atypical cerebral palsy, migraines, strokes. > > Nerves > > > > Weakness (which may be intermittent), neuropathic pain, absent reflexes, > gastrointestinal problem (gastroesophogeal reflux, delayed gastric > emptying, constipation, pseudo-obstruction), fainting, absent or > excessive sweating resulting in temperature regulation problems. > > Muscles > > > > Weakness, hypotonia, cramping, muscle pain. > > Kidneys > > > > Proximal renal tubular wasting resulting in loss of protein, magnesium, > phosphorous, calcium and other electrolytes. > > Heart > > > > Cardiac conduction defects (heart blocks), cardiomyopathy. > > Liver > > > > Hypoglycemia (low blood sugar), liver failure > > Eyes > > > > Visual loss and blindness > > Ears > > > > Hearing loss and deafness > > Pancreas > > > > Diabetes and exocrine pancreatic failure (inability to make digestive > enzymes). > > Systemic > > > > Failure to gain weight, short statue, fatigue, respiratory problems > including intermittent air hunger. > > > > Except where noted, the above excerpts were taken, with permission, from > Mitochondrial Cytopathies: A Primer written by Dr. Bruce Cohen, MD. > View the full article <http://umdf.org/pdf/MITOCYTO.PDF>. 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Guest guest Posted January 25, 2004 Report Share Posted January 25, 2004 , Thanks, that's a great list. Sorry to hear about your layoff, and your husband with no insurance benefits! I hope one day the govt puts all the arguing aside and makes some actual progress on the healthcare front - and the economy. B Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 25, 2004 Report Share Posted January 25, 2004 Thank you for the well wishes ! B wrote: >, > >Thanks, that's a great list. > >Sorry to hear about your layoff, and your husband with no insurance >benefits! I hope one day the govt puts all the arguing aside and makes some >actual progress on the healthcare front - and the economy. > > B > > >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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