citrullinemia type I
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).
MONDO:0015991
citrullinemia
is_a
MONDO:0800153
urea cycle disorder or inherited hyperammonemia
is_a
ASS deficiency
exact
CTLN1
exact
CTNL1
related
argininosuccinate synthase deficiency
exact
argininosuccinate synthetase deficiency
exact
argininosuccinic acid synthase deficiency
exact
argininosuccinic acid synthetase deficiency
exact
citrullinemia
broad
citrullinemia 1
related
citrullinemia type 1
exact
citrullinemia type I
exact
classic citrullinemia
exact
SPBC428.05c