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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
EnglishDeficiency of ornithine-oxo-acid aminotransferase, Hyperornithinaemia, Hyperornithinemia, OAT - Ornithine oxo-acid aminotransferase deficiency, OAT deficiency, OKT deficiency, Ornithine aminotransferase deficiency, Ornithine ketoacid transaminase deficiency, Ornithine oxo-acid aminotransferase deficiency, Ornithine-delta-aminotransferase deficiency, Ornithine-oxo-acid amino acid transferase deficiency, ornithinemia
Spanishdeficiencia de ornitina - delta - aminotransferasa, deficiencia de ornitina - oxo - acido - aminoacido transferasa, deficiencia de ornitina - oxo - acido aminotransferasa, deficiencia de ornitina aminotransferasa, deficiencia de ornitina cetoacido transaminasa, deficiencia de ornitina oxo-acido aminotransferasa, deficiencia de transaminasa cetoacida de ornitina, hiperornitinemia
Parent ConceptsAmino Acid Metabolism, Inborn Errors (C0002514), Retinal Degeneration (C0035304), Enzyme Deficiency (C0149676), Disorder of the urea cycle metabolism (C0154246), Aminoacidemia (C0268457), Disorder of ornithine metabolism (C0342690), Duplicate concept (C1274013), Deficiency of transferase (C1291317), Ambiguous concept (C1274012)
SourcesCSP, MTH, MTHICD9, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



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