Citrullinemia type I
Citrullinemia type I
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) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).
Also known as argininosuccinate synthase deficiency, argininosuccinate synthetase deficiency, argininosuccinic acid synthase deficiency, argininosuccinic acid synthetase deficiency, ASS deficiency, citrullinemia type 1, citrullinemia type I, classic citrullinemia, CTLN1 — per MONDO