Carbamoyl-Phosphate Synthase I Deficiency Disease

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)
Also Known As:
Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease; Carbamoyl-Phosphate Synthetase I Deficiency Disease; Carbamoylphosphate Synthetase I Deficiency Disease; Carbamyl Phosphate Synthetase (CPS) Deficiency; Carbamyl Phosphate Synthetase Deficiency Disease; Deficiency Disease, Carbamoyl Phosphate Synthase (Ammonia); Deficiency Disease, Carbamoyl-Phosphate Synthase; Deficiency Disease, Carbamoylphosphate Synthetase I; CPS 1 Deficiencies; Carbamoyl Phosphate Synthetase I Deficiency Disease; Carbamyl Phosphate Synthetase I Deficiency Disease; Deficiencies, CPS 1; Deficiency Disease, Carbamoyl Phosphate Synthase; Deficiency, CPS 1; CPS 1 Deficiency; Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency); Carbamyl-Phosphate Synthetase I Deficiency Disease; Deficiency Disease, Carbamyl Phosphate Synthetase; Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Ornithine Carbamoyltransferase Deficiency Disease


1. Häberle, J: 1 article (05/2001)
2. Harms, E: 1 article (05/2001)
3. Linnebank, M: 1 article (05/2001)
4. Marquardt, T: 1 article (05/2001)
5. Rapp, B: 1 article (05/2001)
6. Koch, H G: 1 article (05/2001)
7. Wermuth, B: 1 article (05/2001)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Carbamoyl-Phosphate Synthase I Deficiency Disease:
1. LigasesIBA
2. DNA (Deoxyribonucleic Acid)IBA