Skip navigation

Disease Ornithine Carbamoyltransferase Deficiency Disease

Name Ornithine Carbamoyltransferase Deficiency Disease
Synonyms Deficiencies, Ornithine Transcarbamylase | Deficiencies, OTC | Deficiency Disease, Ornithine Carbamoyltransferase | Deficiency Disease, Ornithine Transcarbamylase | Deficiency, Ornithine Transcarbamylase | Deficiency, OTC | Ornithine Carbamoyltransferase Deficiency | Ornithine Transcarbamylase Deficiencies | Ornithine Transcarbamylase Deficiency | Ornithine Transcarbamylase Deficiency Disease | Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To | OTC Deficiencies | OTC Deficiency
Definition 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)
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D020163
External Links

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Ornithine Carbamoyltransferase Deficiency Disease Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, X-Linked Has associated chemicals Has associated genes Ornithine Carbamoyltransferase Deficiency Disease Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Ornithine Carbamoyltransferase Deficiency Disease Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Ornithine Carbamoyltransferase Deficiency Disease Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Ornithine Carbamoyltransferase Deficiency Disease Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Ornithine Carbamoyltransferase Deficiency Disease Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes Ornithine Carbamoyltransferase Deficiency Disease Has associated chemicals Has associated genes

Top ↑ Descendants

Ornithine Carbamoyltransferase Deficiency Disease Has associated chemicals Has associated genes
  ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Has associated chemicals Has associated genes