/citrullinemia type I

citrullinemia type I

Rare Disease

MONDO:0008988

Also Known As

citrullinemiaASS deficiencyCTLN1argininosuccinate synthase deficiencyargininosuccinate synthetase deficiencyargininosuccinic acid synthase deficiencyargininosuccinic acid synthetase deficiencycitrullinemia type 1citrullinemia type Iclassic citrullinemiaCTNL1Citrullinuriacitrullinemia 1citrullinemia, classiccitrullinemia, type 1

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).