Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections. Disease data Classification Disease Synonyms 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Acyduria hydroksymetylglutarowa Niedobór liazy 3-hydroksy-3-metyloglutaro-CoA Niedobór liazy HMG-CoA HMG-CoA lyase deficiency Hydroxymethylglutaric aciduria ORPHA code 20 OMIM code 246450 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