methylmalonicacidemia

methylmalonicacidemia

 [meth″il-mah-lon″ik-as″ĭ-de´me-ah]
1. an inborn error of metabolism characterized by excessive amounts of methylmalonic acid in the blood and urine, with developmental retardation, hepatomegaly, intermittent neutropenia, thrombocytopenia, and severe metabolic acidosis. It is due to any of various defects causing deficiency of activity of an enzyme necessary for using as fuel isoleucine, threonine, valine, propionic acid, and other fatty acids with odd number chain lengths.
2. excess of methylmalonic acid in the blood.
References in periodicals archive ?
(d) CIT, citrullinemia type I; ASA, argininosuccinic acidemia; TYR I, tyrosinemia type I; VLCAD, very long-chain acyl-CoA dehydrogenase deficiency; TFP, mitochondrial trifunctional protein deficiency; CUD, carnitine uptake defect; IVA, isovaleric acidemia; HMG, 3-hydroxy-3-methylglutaricaciduria; MCD, multiple carboxylase deficiency (also known as holocar-boxylase synthetase deficiency); MUT, methylmalonicacidemia by mutase deficiency; 3MCC, 3-methylcrotonyl-CoAcarboxylasedeficiency; CbIA,B, methylmalonicacidemia; PROP, propionicacidemia; BKT, [beta]-ketothiolase deficiency; Hb S/[beta]Th, Hb S/[beta]-thalassemia; ND, not discussed; NA, not available.