Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. Disease data Classification Disease Synonyms MCEE deficiency Acyduria metylomalonowa z powodu niedoboru epimerazy metylomalonylo-CoA Acyduria metylomalonowa z powodu niedoboru racemazy metylomalonylo-CoA Kwasica metylomalonowa z powodu niedoboru racemazy metylomalonylo-CoA Niedobór MCEE Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency ORPHA code 308425 OMIM code 251120 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