Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported. Disease data Klasyfikacja Disease Synonimy 2-methylbutyric aciduria Acyduria 2-metylobutyrylowa Niedobór dehydrogenazy krótkich/rozgałęzionych łańcuchów acylo-CoA Niedobór SBCAD Opóźnienie rozwoju z powodu niedoboru dehydrogenazy 2-metylobutyrylo-CoA Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency SBCAD deficiency Short/branched-chain acyl-coA dehydrogenase deficiency Kod ORPHA 79157 Kod OMIM 610006 Kod ICD10 E71.1 Kod ICD11 - *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