Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. Disease data Classification Disease Synonyms ACADM deficiency MCADD Niedobór MCAD Niedobór ACADM Niedobór dehydrogenazy średnich łańcuchów acetylo-koenzymu A Niedobór karnityny wtórny do niedoboru dehydrogenazy średnich łańcuchów acetylo-CoA Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency MCAD deficiency MCADD Medium chain acyl-coenzyme A dehydrogenase deficiency ORPHA code 42 OMIM code 201450 ICD10 code E71.3 ICD11 code 5C52.01 *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