Ornithine Carbamoyltransferase Deficiency Disease MeSH Descriptor Data 2024

MeSH Heading: Ornithine Carbamoyltransferase Deficiency Disease
Tree Number(s): C10.228.140.163.100.937.750; C16.320.322.828; C16.320.565.100.940.750; C16.320.565.189.937.750; C18.452.132.100.937.500; C18.452.648.100.940.500; C18.452.648.189.937.500
Unique ID: D020163
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D020163
Scope Note: An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)
Entry Version: ORNITHINE CARBAMOYLTRANSFERASE DEFIC DIS
Entry Term(s): Deficiency Disease, Ornithine Carbamoyltransferase; Deficiency Disease, Ornithine Transcarbamylase; OTC Deficiency; Ornithine Carbamoyltransferase Deficiency; Ornithine Transcarbamylase Deficiency; Ornithine Transcarbamylase Deficiency Disease; Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Previous Indexing: Ornithine Carbamoyltransferase/deficiency (1966-1999)
See Also: Ornithine Carbamoyltransferase
Public MeSH Note: 2000
History Note: 2000
Date Established: 2000/01/01
Date of Entry: 1999/11/03
Revision Date: 2013/07/08

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]
  - Genetic Diseases, X-Linked [C16.320.322]

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]

Ornithine Carbamoyltransferase Deficiency Disease Preferred

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