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Methylmalonic Acidemia Brief Overview of Methylmalonic Acidemia

Brief Overview of Methylmalonic Acidemia

Methylmalonic acidemia is an autosomal recessive disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA. Patients typically present at the age of 1 month to 1 year with neurologic manifestations, such as seizure, encephalopathy, and stroke.
Several cases have involved stroke in the bilateral globus pallidi as a result of methylmalonic acidemia.

Several mutations have been identified in the MUT gene resulting in MMA. There can be deletions, insertions, missense or nonmutations, and so on that lead to clinical phenotype. Mutations of the MUT gene are estimated to cause 60% of MMA cases. These mutations result in defects in the methylmalonyl-CoA mutase enzyme. The gene has been mapped to chromosome 6p12-21.2

There is reportedly 1 case of methylmalonic acidemia in 25,000-48,000 population. Nyhan and Sakati stated that the true prevalence may be higher because many neonatal deaths may be caused by unrecognized metabolic disorders.

For patient education information, see eMedicineHealth’s Brain and Nervous System Center, as well as Stroke.

Go to Neuro-vascular Diseases for more information on metabolic diseases and stroke.

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