Carbamoyl-Phosphate Synthase I Deficiency Disease
"Carbamoyl-Phosphate Synthase I Deficiency Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
| Descriptor ID |
D020165
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| MeSH 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
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| Concept/Terms |
Carbamoyl-Phosphate Synthase I Deficiency Disease- Carbamoyl-Phosphate Synthase I Deficiency Disease
- 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
Carbamoyl Phosphate Synthase 1 Deficiency- 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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Below are MeSH descriptors whose meaning is more general than "Carbamoyl-Phosphate Synthase I Deficiency Disease".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Urea Cycle Disorders, Inborn [C10.228.140.163.100.937]
- Carbamoyl-Phosphate Synthase I Deficiency Disease [C10.228.140.163.100.937.249]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Urea Cycle Disorders, Inborn [C16.320.565.100.940]
- Carbamoyl-Phosphate Synthase I Deficiency Disease [C16.320.565.100.940.249]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Urea Cycle Disorders, Inborn [C16.320.565.189.937]
- Carbamoyl-Phosphate Synthase I Deficiency Disease [C16.320.565.189.937.249]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Urea Cycle Disorders, Inborn [C18.452.132.100.937]
- Carbamoyl-Phosphate Synthase I Deficiency Disease [C18.452.132.100.937.249]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Urea Cycle Disorders, Inborn [C18.452.648.100.940]
- Carbamoyl-Phosphate Synthase I Deficiency Disease [C18.452.648.100.940.249]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Urea Cycle Disorders, Inborn [C18.452.648.189.937]
- Carbamoyl-Phosphate Synthase I Deficiency Disease [C18.452.648.189.937.249]
- Mitochondrial Diseases [C18.452.660]
- Carbamoyl-Phosphate Synthase I Deficiency Disease [C18.452.660.097]
Below are MeSH descriptors whose meaning is more specific than "Carbamoyl-Phosphate Synthase I Deficiency Disease".
This graph shows the total number of publications written about "Carbamoyl-Phosphate Synthase I Deficiency Disease" by people in this website by year, and whether "Carbamoyl-Phosphate Synthase I Deficiency Disease" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2004 | 0 | 1 | 1 |
| 2011 | 1 | 0 | 1 |
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Below are the most recent publications written about "Carbamoyl-Phosphate Synthase I Deficiency Disease" by people in Profiles.
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Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. Hum Mutat. 2011 Jun; 32(6):579-89.
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Molecular characterization of CPS1 deletions by array CGH. Mol Genet Metab. 2011 Jan; 102(1):103-6.
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Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. J Nutr. 2004 10; 134(10 Suppl):2775S-2782S; discussion 2796S-2797S.