Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 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 Klasyfikacja Disease Synonimy Methylmalonyl-CoA mutase deficiency Acyduria metylomalonowa niereagująca na witaminę B12 Methylmalonyl-Coenzyme A mutase deficiency Vitamin B12-unresponsive methylmalonic aciduria Kod ORPHA 27 Kod OMIM 251000 Kod ICD10 E71.1 Kod ICD11 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