Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: <i>mut0</i> and <i>mut-</i> (see these terms). Disease data Classification Disease Synonyms Methylmalonyl-CoA mutase deficiency Acyduria metylomalonowa niereagująca na witaminę B12 Methylmalonyl-Coenzyme A mutase deficiency Vitamin B12-unresponsive methylmalonic aciduria ORPHA code 27 OMIM code 251000 ICD10 code E71.1 ICD11 code 5C50.E0 *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