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Ornithine Transcarbamylase DeficiencyAka: Hyperornithinemia

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  1. See Also
    1. Inborn Errors of Metabolism
  2. Epidemiology
    1. Most common urea cycle disorder
    2. Incidence: 1:70,000
  3. Pathophysiology
    1. X-Linked disorder
  4. Signs: Boys (severe signs due to single X-chromosome)
    1. Refractory Emesis
    2. Hyperammonemia
    3. Progressive encephalopathy
  5. Signs: Girl (mild signs due to heterozygous)
    1. Mild hyperammonemia
    2. May present with patient avoiding protein in general
  6. 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
  7. Complications
    1. Hepatic failure
  8. References
    1. Raghuveer (2006) Am Fam Physician 73:1981

Hyperornithinemia (C0599035)

Definition (CSP)excess of ornithine in the plasma, such as occurs in the genetic disorders gyrate atrophy of choroid and retina and hyperornithinemia-hyperamonemia-homocitrullinuria syndrome.
ConceptsDisease or Syndrome (T047)
ICD9270.6
EnglishHyperornithinaemia, Hyperornithinemia, OAT deficiency, OKT deficiency, Ornithine aminotransferase deficiency, Ornithine ketoacid transaminase deficiency, ornithinemia
Spanishdeficiencia de ornitina aminotransferasa, deficiencia de ornitina cetoácido transaminasa, deficiencia de ornitina cetoacido transaminasa, deficiencia de transaminasa cetoácida de ornitina, deficiencia de transaminasa cetoacida de ornitina, hiperornitinemia
CreditsDerived from the NIH UMLS (Unified Medical Language System)



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