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Methylmalonic acidemia





Methylmalonic acidemia

Treatment:

Treatment consists of dietary supplementation with cobalamin, carnitine, and protein restriction.

If cobalamine supplementation doesn't help, a diet restricting isoleucine, threonine, methionine, and valine may be useful.


Expectations (prognosis):

Unfortunately, affected patients may not survive their first attack.


Complications:

Calling your health care provider:

Parents or care-givers of a child with a first seizure should immediately seek medical attention. Infants with failure-to-thrive or developmental delays should see a pediatrician. Adults and children with strokes or acute mental status changes should seek immediate medical attention.




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