Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase. Disease data Classification Clinical group Synonyms Methylmalonic aciduria without homocystinuria Acyduria metylomalonowa bez homocystynurii ORPHA code 293355 OMIM code - ICD10 code E71.1 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl