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)
推出的年份: 2000
树号: 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 单一 ID: D020165
进入的组:
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
早前的内容:
Amino Acid Metabolism, Inborn Errors (1975-1999)
Carbamoyl-Phosphate Synthase (Ammonia)/deficiency (1989-1999)
Metabolism, Inborn Errors (1970-1974)
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