Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I, see this term). Disease data Classification Disease Synonyms ASS deficiency Citrulinemia klasyczna Citrulinemia typu 1 CTLN1 Niedobór ASS Niedobór syntazy argininobursztynianu Niedobór syntazy kwasu argininobursztynowego Niedobór syntetazy argininobursztynianu Niedobór syntetazy kwasu argininobursztynowego Argininosuccinate synthase deficiency Argininosuccinate synthetase deficiency Argininosuccinic acid synthase deficiency Argininosuccinic acid synthetase deficiency CTLN1 Citrullinemia type 1 Classic citrullinemia ORPHA code 247525 OMIM code 215700 ICD10 code E72.2 ICD11 code - *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