DISEASES

Disease-gene associations mined from literature

Human genes for methylmalonic acidemia

Methylmalonic acidemia [DOID:14749]

Methylmalonic acidemia (MMA), also called methylmalonic aciduria, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia.

Synonyms:  methylmalonic acidemia,  DOID:14749,  METHYLMALONIC ACIDEMIA, cblA TYPE,  METHYLMALONIC ACIDEMIA, cblB TYPE,  METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY ...