Ornithine Carbamoyltransferase Deficiency Disease

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)

Also Known As:

Deficiency Disease, Ornithine Carbamoyltransferase; Deficiency Disease, Ornithine Transcarbamylase; Ornithine Carbamoyltransferase Deficiency; Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To; Deficiencies, OTC; Deficiencies, Ornithine Transcarbamylase; Deficiency, OTC; Deficiency, Ornithine Transcarbamylase; OTC Deficiencies; Ornithine Transcarbamylase Deficiencies; OTC Deficiency; Ornithine Transcarbamylase Deficiency; Ornithine Transcarbamylase Deficiency Disease

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Inborn Urea Cycle Disorders: 569
        Ornithine Carbamoyltransferase Deficiency Disease: 614
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Inborn Urea Cycle Disorders: 569
        Ornithine Carbamoyltransferase Deficiency Disease: 614
    - Inborn Errors Amino Acid Metabolism: 1
      - Inborn Urea Cycle Disorders: 569
        Ornithine Carbamoyltransferase Deficiency Disease: 614
  - X-Linked Genetic Diseases: 42
    - Ornithine Carbamoyltransferase Deficiency Disease: 614
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Inborn Urea Cycle Disorders: 569
        Ornithine Carbamoyltransferase Deficiency Disease: 614
    - Inborn Errors Amino Acid Metabolism: 1
      - Inborn Urea Cycle Disorders: 569
        Ornithine Carbamoyltransferase Deficiency Disease: 614
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Inborn Urea Cycle Disorders: 569
        Ornithine Carbamoyltransferase Deficiency Disease: 614

François P J Karstens Selected Research

François P J Karstens Research Topics

Disease

Drug/Important Bio-Agent (IBA)