U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

PubMed search builder options

Subheadings:

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
  • Carbamoylphosphate Synthetase I Deficiency Disease
  • 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
  • Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
  • Carbamoyl Phosphate Synthase 1 Deficiency
  • Carbamoyl Phosphate Synthetase I Deficiency
  • CPS I Deficiency
  • CPS I Deficiencies
  • CPS 1 Deficiency
  • CPS 1 Deficiencies
  • Carbamyl Phosphate Synthetase (CPS) Deficiency
  • Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
  • Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To

Previous Indexing:

See Also:

Supplemental Content

Loading ...