3-methylglutaconic acidemia???

[Guest guest]

Is anyone familiar with this organic acidemia? Information on the

Internet seems pretty limited. A lot of the info available is

scientific rather than info about symptoms, treatment, prognosis. (I

did look on the OAA website but the list of symptoms didn't match

's at all?!)

Also, 's metabolic dr. said that this organic acidemia is

sometimes associated with electron transport chain deficiences. Are

these the same as the Complex deficiencies? Do any of your kids have

mito and another type of metabolic disorder? Just wondered if this

happened often.

Sorry for all the questions. I'm still trying to sort out all the

information. Next month we have an appt. with Dr. Cohen. I'm really

hoping for some answers.

Sharon

[Guest guest]

Sharon,

Yes, electron transport chain deficiencies,

are represented by different parts of the “Chain”, those are the

complexes. These represent which part of the electron transport has a problem. My son Cameron has ethlymalonic

acid show up in his tests which they can not tell me much about either. We are pretty sure that there is a

problem with the electron transport chain, maybe complex II ( think of an

assembly line with one worker missing ) but can not tell which complex (worker)

is missing or “slacking off on the job”. I hope this elementary simple explanation

is not offensive but helpful. I

have used the assembly line explanation on even my most un-medically minded

friends and relatives and they get it.

Hope that is helpful.

3-methylglutaconic

acidemia???

Is anyone familiar with this organic acidemia?

Information on the

Internet seems pretty limited. A lot of the info

available is

scientific rather than info about symptoms,

treatment, prognosis. (I

did look on the OAA website but the list of

symptoms didn't match

's at all?!)

Also, 's metabolic dr. said that this organic

acidemia is

sometimes associated with electron transport chain

deficiences. Are

these the same as the Complex deficiencies? Do any

of your kids have

mito and another type of metabolic disorder? Just

wondered if this

happened often.

Sorry for all the questions. I'm still trying to

sort out all the

information. Next month we have an appt. with Dr.

Cohen. I'm really

hoping for some answers.

Sharon

Please contact

mito-owner with any problems or questions.

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Terms of Service.

[Guest guest]

Dear Sharon,

I am very new to this site and asked a few questions last month

regarding my daughter's issues(she has blood/urine tests indicative

of mitochondrial metabolism disorder and repeated high lactic acid

levels.

Your question caught my eye and I looked up one of our letters I

received last summer-2001. I don't know if it will help (and I can't

comment on it, because I don't know the half of what's involved here)

but I thought I would mention it in case anyone else could comment on

it.

" Her organic acids showed high excretion of glutarate, succinate, 3-

methylglutaconate, and tiglyglycine, and aconate. The aconate,

succinate, and glutarate are citric acid cycle intermediates, which

suggest a defect in oxidative phosphorylation. 3-Methylglutaconate

is an intermediate of cholesterol and lysine metabolism, which for

unknown reasons is also seen in disorders of oxidative

phosphorylation. "

Does this help in any way....or does anyone else have comments??

I too looked up and down for info on this as well as high carnitine

in the urine, high alanine, and high lactic acid. I could find more

on these than on 3-Methyl... that you asked about(and I've listed

above).

I'd be interested to hear anything you have found out. We too see

Dr. Cohen next month. Best wishes to you to find the answers 'we'

need.

Kathy

> Is anyone familiar with this organic acidemia? Information on the

> Internet seems pretty limited. A lot of the info available is

> scientific rather than info about symptoms, treatment, prognosis.

(I

> did look on the OAA website but the list of symptoms didn't match

> 's at all?!)

>

> Also, 's metabolic dr. said that this organic acidemia is

> sometimes associated with electron transport chain deficiences. Are

> these the same as the Complex deficiencies? Do any of your kids

have

> mito and another type of metabolic disorder? Just wondered if this

> happened often.

>

> Sorry for all the questions. I'm still trying to sort out all the

> information. Next month we have an appt. with Dr. Cohen. I'm really

> hoping for some answers.

>

> Sharon

[Guest guest]

Sharon,

>> Is anyone familiar with this organic acidemia? Information on the

>> Internet seems pretty limited. A lot of the info available is

>> scientific rather than info about symptoms, treatment, prognosis.

I just happened to read an article today about a girl with

3-methylglutaconic aciduria. The article, " There is Hope " by

Baccus Luker, appears in a booklet that UMDF sent me called

" Mitochondrial and Metabolic Disorders: A Parent's Guide " (published by

Exceptional Parent magazine). The girl in the article tested deficient

for carnitine and responded very positively to Carnitor.

-- Mom to:

Emilie (16), mito--complex IV, cp, ld

Kaitlin (16), cp, asthma, a few autonomic symptoms

Ian (20) migraines

....and wife to Tim, who has a heart of gold