Methylmalonic acidemia

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Methylmalonic acidemia
Methylmalonic acid.svg
Methylmalonic acid
ICD-10 E71.1
ICD-9 270.3
DiseasesDB 29509 29510
MedlinePlus 001162
eMedicine neuro/576 

Overview

Methylmalonic acidemia (MMA, also known as "methylmalonic aciduria") is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia.

Methylmalonic acidemia does not always result in death, if it is diagnosed at an early age.

Historical Perspective

Classification

Types

Cobalmin (vitamin B12) is also needed for the conversion of methylmalonyl-CoA to Succinyl-CoA. Mutations leading to defects in cobalmin or in its transport frequently result in the development of acidemia. The numerous pat

Pathophysiology

Causes

Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. Methylmalonic acidemia is a disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA by methylmalonyl-CoA mutase.

Differentiating Methylmalonic acidemia from Other Diseases

Epidemiology and Demographics

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Natural History, Complications, and Prognosis

Diagnosis

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Treatment

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