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)
Year introduced: 2000
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Tree Number(s): C10.228.140.163.100.937.249, C16.320.565.100.940.249, C16.320.565.189.937.249, C18.452.132.100.937.249, C18.452.648.100.940.249, C18.452.648.189.937.249, C18.452.660.097
MeSH Unique ID: D020165
Entry Terms:
- Carbamyl-Phosphate Synthetase I Deficiency Disease
- Carbamyl Phosphate Synthetase I Deficiency Disease
- Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease
- Carbamoyl-Phosphate Synthetase I Deficiency Disease
- Carbamoyl Phosphate Synthetase I Deficiency Disease
- Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
- Carbamyl Phosphate Synthetase Deficiency Disease
- Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
- Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
- Carbamoylphosphate Synthetase 1 Deficiency Disease -
- Carbamoylphosphate Synthetase 1 Deficiency Disease
- Carbamyl-Phosphate Synthetase 1 Deficiency Disease
- Carbamyl Phosphate Synthetase 1 Deficiency Disease
- Carbamoyl-Phosphate Synthase 1 Deficiency Disease
- Carbamoyl Phosphate Synthase 1 Deficiency Disease
- Carbamoylphosphate Synthetase I Deficiency Disease
- Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
- Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
- Carbamoyl Phosphate Synthase 1 Deficiency
- CPS I Deficiency
- CPS I Deficiencies
- Carbamyl Phosphate Synthetase (CPS) Deficiency
- CPS 1 Deficiency
- CPS 1 Deficiencies
- Carbamoyl Phosphate Synthetase I Deficiency
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