Abstract
Methylmalonic acidemia (MMA) is an organic acidemia in the class of diseases caused by enzymatic defects in the catabolism of branched-chain amino acids (valine, isoleucine, methionine, and threonine), odd-chain fatty acids, and cholesterol. MMA is an autosomal recessive disorder caused by a deficiency in methylmalonyl–coenzyme A (CoA) mutase (encoded by the MUT gene) or ATP:cob(I)alamin adenosyltransferase activity (encoded by the MMAB gene).1 The causes of MMA are heterogeneous, but the clinical presentation of patients is similar.
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