CAPS deficiency
[genetic aminoacidopathy due to a deficiency of carbamoyl phosphate synthase (ammonia); characteristic symptoms include pronounced hyperammonemia without orotic aciduria, protein intolerance, and neurologic disorders. ( CSP )]
UMLS (CSP) C0751753carbamoyl phosphate synthetase deficiency
Carbamoyl-Phosphate Synthase I Deficiency Disease
carbamyl phosphate synthetase deficiency
congenital hyperammonemia type I
Carbamoyl-Phosphate Synthase I Deficiency Disease
carbamyl phosphate synthetase deficiency
congenital hyperammonemia type I
- Disease or Syndrome
Relation/PAR: Amino Acid Metabolism, Inborn Errors
enzyme deficiency
inborn urea cycle disorder
enzyme deficiency
inborn urea cycle disorder
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