Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic disorder of urea cycle metabolism typically characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms that manifest with stress- or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities, or chronic liver disease. Patients often manifest liver dysfunction. Disease data Classification Disease Synonyms ASA deficiency Niedobór argininosukcynazy Niedobór ASA Niedobór ASL Niedobór liazy argininobursztynianowej Niedobór liazy kwasu argininobursztynowego ASL deficiency Argininosuccinase deficiency Argininosuccinatelyase deficiency Argininosuccinic acid lyase deficiency ORPHA code 23 OMIM code 207900 ICD10 code E72.2 ICD11 code 5C50.A0 *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