Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).
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arginase deficiency
MONDO:0008814
argininosuccinic aciduria
MONDO:0008815
citrullinemia type I
MONDO:0008988
carbamoyl phosphate synthetase I deficiency disease
MONDO:0009376
hyperammonemia due to N-acetylglutamate synthase deficiency
MONDO:0009377
ornithine translocase deficiency
MONDO:0009393