carbamoyl phosphate synthetase I deficiency disease
Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
MONDO:0800153
urea cycle disorder or inherited hyperammonemia
is_a
CPS1 deficiency
exact
CPS1D
exact
carbamoyl phosphate synthetase I deficiency disease
exact
carbamoyl phosphate synthetase deficiency
exact
carbamoyl-phosphate synthase deficiency disease
exact
carbamoyl-phosphate synthetase I deficiency
exact
carbamoyl-phosphate synthetase deficiency
exact
carbamoylphosphate synthetase I deficiency
exact
carbamyl phosphate synthetase (CPS) deficiency
related
hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency
related
SPBC215.08c SPBC56F2.09c