Metabolism

Ornithine Transcarbamylase Deficiency

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Ornithine Transcarbamylase Deficiency, Hyperornithinemia

  • Epidemiology
  1. Most common urea cycle disorder
  2. Incidence: 1:70,000
  • Pathophysiology
  1. X-Linked disorder
  • Signs
  • Boys (severe signs due to single X-Chromosome)
  1. Refractory Emesis
  2. Hyperammonemia
  3. Progressive encephalopathy
  1. Mild hyperammonemia
  2. May present with patient avoiding protein in general
  • Management
  1. Acute
    1. Sodium benzoate
    2. Sodium phenylacetate
    3. Arginine
    4. Dialysis
  2. Chronic: Maintenance
    1. Low protein diet with essential Amino Acid Supplement
  • Complications
  1. Hepatic failure