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)
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
Concept/Terms
Carbamoyl-Phosphate Synthase I Deficiency Disease- Carbamoyl-Phosphate Synthase I Deficiency Disease
- Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
- Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease
- Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
- Carbamoyl-Phosphate Synthetase I Deficiency Disease
- Carbamoyl Phosphate Synthetase I Deficiency Disease
- Deficiency Disease, Carbamoylphosphate Synthetase I
- Carbamyl Phosphate Synthetase (CPS) Deficiency
- Carbamyl Phosphate Synthetase Deficiency Disease
- Carbamyl-Phosphate Synthetase I Deficiency Disease
- Carbamyl Phosphate Synthetase I Deficiency Disease
- CPS 1 Deficiency
- CPS 1 Deficiencies
- Deficiencies, CPS 1
- Deficiency, CPS 1
- Deficiency Disease, Carbamoyl Phosphate Synthase (Ammonia)
- Deficiency Disease, Carbamoyl-Phosphate Synthase
- Deficiency Disease, Carbamoyl Phosphate Synthase
- Deficiency Disease, Carbamyl Phosphate Synthetase
- Carbamoylphosphate Synthetase I Deficiency Disease
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 Harvard Catalyst Profiles by year, and whether "Carbamoyl-Phosphate Synthase I Deficiency Disease" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2001 | 1 | 0 | 1 |
| 2007 | 0 | 1 | 1 |
| 2009 | 1 | 0 | 1 |
Below are the most recent publications written about "Carbamoyl-Phosphate Synthase I Deficiency Disease" by people in Profiles.
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A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age. Brain Dev. 2009 Nov; 31(10):779-81.
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Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. N Engl J Med. 2007 May 31; 356(22):2282-92.
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Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy. Pediatr Neurol. 2001 Mar; 24(3):193-9.