Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence. Disease data Classification Disease Synonyms 3-ketothiolase deficiency Kwasica alfa metyloacetooctowa Niedobór 3-ketotiolazy Niedobór 3-oksotiolazy Niedobór mitochondrialnej tiolazy acetoacetylo-koenzymu A Niedobór T2 Niedobór tiolazy alfa-metylo-acetoacetylo-CoA 3-oxothiolase deficiency Alpha methylacetoacetic aciduria Alpha-methyl-acetoacetyl-CoA thiolase deficiency Mitochondrial acetoacetyl-coenzyme A thiolase deficiency T2 deficiency ORPHA code 134 OMIM code 203750 ICD10 code E71.1 ICD11 code 5C50.DY *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