MeSH Browser

MeSH Heading: Carbamoyl-Phosphate Synthase I Deficiency Disease
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
Unique ID: D020165
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D020165
Annotation: consider also CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA)/defic
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)
Entry Version: CARBAMOYL PHOSPHATE SYNTHASE I DEFIC DIS
Entry Term(s): CPS 1 Deficiency; CPS I Deficiency; Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease; Carbamoyl Phosphate Synthase 1 Deficiency; Carbamoyl Phosphate Synthetase I Deficiency; 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 I Deficiency Disease; Carbamyl Phosphate Synthetase (CPS) Deficiency; Carbamyl Phosphate Synthetase Deficiency Disease; Carbamyl-Phosphate Synthetase 1 Deficiency Disease; Carbamyl-Phosphate Synthetase I Deficiency Disease; Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Previous Indexing: Amino Acid Metabolism, Inborn Errors (1975-1999); Carbamoyl-Phosphate Synthase (Ammonia)/deficiency (1989-1999); Metabolism, Inborn Errors (1970-1974)
See Also: Carbamoyl-Phosphate Synthase (Ammonia)
Public MeSH Note: 2000
History Note: 2000
Date Established: 2000/01/01
Date of Entry: 1999/11/05
Revision Date: 2016/02/26

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

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]
        
        Argininosuccinic Aciduria [C10.228.140.163.100.937.124]
        
        Carbamoyl-Phosphate Synthase I Deficiency Disease [C10.228.140.163.100.937.249]
        
        Citrullinemia [C10.228.140.163.100.937.374]
        
        Hyperargininemia [C10.228.140.163.100.937.500]
        
        Ornithine Carbamoyltransferase Deficiency Disease [C10.228.140.163.100.937.750]

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]
        
        Argininosuccinic Aciduria [C16.320.565.100.940.124]
        
        Carbamoyl-Phosphate Synthase I Deficiency Disease [C16.320.565.100.940.249]
        
        Citrullinemia [C16.320.565.100.940.374]
        
        Hyperargininemia [C16.320.565.100.940.500]
        
        Ornithine Carbamoyltransferase Deficiency Disease [C16.320.565.100.940.750]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]
      - Urea Cycle Disorders, Inborn [C16.320.565.189.937]
        
        Argininosuccinic Aciduria [C16.320.565.189.937.124]
        
        Carbamoyl-Phosphate Synthase I Deficiency Disease [C16.320.565.189.937.249]
        
        Citrullinemia [C16.320.565.189.937.374]
        
        Hyperargininemia [C16.320.565.189.937.500]
        
        Ornithine Carbamoyltransferase Deficiency Disease [C16.320.565.189.937.750]

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]
        
        Argininosuccinic Aciduria [C18.452.132.100.937.124]
        
        Carbamoyl-Phosphate Synthase I Deficiency Disease [C18.452.132.100.937.249]
        
        Citrullinemia [C18.452.132.100.937.374]
        
        Hyperargininemia [C18.452.132.100.937.437]
        
        Ornithine Carbamoyltransferase Deficiency Disease [C18.452.132.100.937.500]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
      - Urea Cycle Disorders, Inborn [C18.452.648.100.940]
        
        Argininosuccinic Aciduria [C18.452.648.100.940.124]
        
        Carbamoyl-Phosphate Synthase I Deficiency Disease [C18.452.648.100.940.249]
        
        Citrullinemia [C18.452.648.100.940.374]
        
        Hyperargininemia [C18.452.648.100.940.437]
        
        Ornithine Carbamoyltransferase Deficiency Disease [C18.452.648.100.940.500]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]
      - Urea Cycle Disorders, Inborn [C18.452.648.189.937]
        
        Argininosuccinic Aciduria [C18.452.648.189.937.124]
        
        Carbamoyl-Phosphate Synthase I Deficiency Disease [C18.452.648.189.937.249]
        
        Citrullinemia [C18.452.648.189.937.374]
        
        Hyperargininemia [C18.452.648.189.937.437]
        
        Ornithine Carbamoyltransferase Deficiency Disease [C18.452.648.189.937.500]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Mitochondrial Diseases [C18.452.660]

Carbamoyl-Phosphate Synthase I Deficiency Disease Preferred

Carbamoyl Phosphate Synthase 1 Deficiency Related

Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency Related

Carbamoyl-Phosphate Synthase I Deficiency Disease MeSH Descriptor Data 2024