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GENATLAS PHENOTYPE
last update : 29-04-2013
Symbol OTC
Location Xp21.1
Name ornithine transcarbamylase deficiency
Other name(s)
  • ornithine carbamoyltransferase deficiency
  • hyperammonemia due to ornithine transcarbamylase deficiency
  • Corresponding gene OTC
    related resource Ornithine transcarbamylase deficiency
    Other symbol(s) OTCD
    Main clinical features
  • characterized by triad of hyperammonemia, encephalopathy, and respiratory alkalosis, mental retardation
  • neonatal distress and hyperammonemia
  • also cases with encephalopathy and fatty visceral degeneration suggestive of Reye syndrome
  • Genetic determination sex linked
    Related entries including late-onset hyperammonemic coma
    Function/system disorder metabolism/aminoacids
    Type disease
    Gene product
    Name ornithine carbamoyltransferase (OTC)
    Remark(s)