Carbamoyl-Phosphate Synthase I Deficiency Disease

Synonyms

CPS 1 Deficiencies

CPS 1 Deficiency

CPS I Deficiencies

CPS I Deficiency

Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease

Carbamoyl Phosphate Synthase 1 Deficiency

Carbamoyl Phosphate Synthase 1 Deficiency Disease

Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)

Carbamoyl Phosphate Synthetase I Deficiency

Carbamoyl Phosphate Synthetase I Deficiency Disease

Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To

Carbamoyl-Phosphate Synthase 1 Deficiency Disease

Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)

Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)

Carbamoyl-Phosphate Synthetase I Deficiency Disease

Carbamoylphosphate Synthetase 1 Deficiency Disease

Carbamoylphosphate Synthetase 1 Deficiency Disease -

Carbamoylphosphate Synthetase I Deficiency Disease

Carbamyl Phosphate Synthetase (CPS) Deficiency

Carbamyl Phosphate Synthetase 1 Deficiency Disease

Carbamyl Phosphate Synthetase Deficiency Disease

Carbamyl Phosphate Synthetase I Deficiency Disease

Carbamyl-Phosphate Synthetase 1 Deficiency Disease

Carbamyl-Phosphate Synthetase I Deficiency Disease

Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency

A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)