| Descriptor English: | Carbamoyl-Phosphate Synthase I Deficiency Disease | ||||||
| Descriptor Spanish: |
Enfermedad por Deficiencia de Carbamoil-Fosfato Sintasa I
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| Descriptor Portuguese: | Doença da Deficiência da Carbamoil-Fosfato Sintase I | ||||||
| Descriptor French: | Déficit en carbamoyl-phosphate synthase I | ||||||
| Entry term(s): |
CPS 1 Deficiencies CPS 1 Deficiency CPS I Deficiencies CPS I Deficiency Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease Carbamoyl Phosphate Synthase 1 Deficiency Carbamoyl Phosphate Synthase 1 Deficiency Disease Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) Carbamoyl Phosphate Synthetase I Deficiency Carbamoyl Phosphate Synthetase I Deficiency Disease Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To Carbamoyl-Phosphate Synthase 1 Deficiency Disease Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) Carbamoyl-Phosphate Synthetase I Deficiency Disease Carbamoylphosphate Synthetase 1 Deficiency Disease Carbamoylphosphate Synthetase 1 Deficiency Disease - Carbamoylphosphate Synthetase I Deficiency Disease Carbamyl Phosphate Synthetase (CPS) Deficiency Carbamyl Phosphate Synthetase 1 Deficiency Disease Carbamyl Phosphate Synthetase Deficiency Disease Carbamyl Phosphate Synthetase I Deficiency Disease Carbamyl-Phosphate Synthetase 1 Deficiency Disease Carbamyl-Phosphate Synthetase I Deficiency Disease Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency |
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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 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D020165 | ||||||
| Scope note: | 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) |
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| Annotation: | consider also CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA)/defic |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Amino Acid Metabolism, Inborn Errors (1975-1999) Carbamoyl-Phosphate Synthase (Ammonia)/deficiency (1989-1999) Metabolism, Inborn Errors (1970-1974) |
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| Public MeSH Note: | 2000 |
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| History Note: | 2000 |
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| Entry Version: | CARBAMOYL PHOSPHATE SYNTHASE I DEFIC DIS |
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| Related: |
Carbamoyl-Phosphate Synthase (Ammonia)
MeSH | ||||||
| DeCS ID: | 34229 | ||||||
| Unique ID: | D020165 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2000/01/01 | ||||||
| Date of Entry: | 1999/11/05 | ||||||
| Revision Date: | 2016/02/26 |
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Carbamoyl-Phosphate Synthase I Deficiency Disease
- Preferred
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
- Related but not broader or narrower
Carbamoyl Phosphate Synthase 1 Deficiency
- Related but not broader or narrower
| Concept UI |
M0328185 |
| Scope note | 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) |
| Preferred term | Carbamoyl-Phosphate Synthase I Deficiency Disease |
| Entry term(s) |
Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease Carbamoyl Phosphate Synthase 1 Deficiency Disease Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) Carbamoyl Phosphate Synthetase I Deficiency Disease Carbamoyl-Phosphate Synthase 1 Deficiency Disease Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) Carbamoyl-Phosphate Synthetase I Deficiency Disease Carbamoylphosphate Synthetase 1 Deficiency Disease Carbamoylphosphate Synthetase 1 Deficiency Disease - Carbamoylphosphate Synthetase I Deficiency Disease Carbamyl Phosphate Synthetase 1 Deficiency Disease Carbamyl Phosphate Synthetase Deficiency Disease Carbamyl Phosphate Synthetase I Deficiency Disease Carbamyl-Phosphate Synthetase 1 Deficiency Disease Carbamyl-Phosphate Synthetase I Deficiency Disease |
| Concept UI |
M000614169 |
| Preferred term | Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency |
| Entry term(s) |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
| Concept UI |
M000614168 |
| Preferred term | Carbamoyl Phosphate Synthase 1 Deficiency |
| Entry term(s) |
CPS 1 Deficiencies CPS 1 Deficiency CPS I Deficiencies CPS I Deficiency Carbamoyl Phosphate Synthetase I Deficiency Carbamyl Phosphate Synthetase (CPS) Deficiency |
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