Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive. Disease data Classification Disease Synonyms Cystathionase deficiency Niedobóe gamma-cystationazy Niedobór cystationazy Niedobór liazy gamma - cystationu Cystathionine gamma-lyase deficiency syndrome Gamma-cystathionase deficiency ORPHA code 212 OMIM code 219500 ICD10 code E72.1 ICD11 code 5C50.B *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