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Ornithine Transcarbamylase Deficiency

Aka: Ornithine Transcarbamylase Deficiency, Hyperornithinemia
  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 73:1981-90

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.
Concepts Disease or Syndrome (T047)
MSH C537132
SnomedCT 276426004, 190716009, 193471005, 33985005, 87126009, 124292005
English Hyperornithinemia, NOS, Ornithinemia, OAT-Ornth ox-acd amno trns def, Ornith ketoacid transamin def, Ornith oxo-acid aminotrans def, Ornith oxoacidaminotrans def, Ornithine oxoacidaminotransferase deficiency, Hyperornithinaemia, NOS, Hyperornithinemia, Ornithine oxo-acid aminotransferase deficiency, ornithine aminotransferase deficiency, hyperornithinemia (diagnosis), hyperornithinemia, Hyperornithinemia with gyrate atrophy of choroid and retina, Ornithine ketoacid aminotransferase deficiency, Ornithine aminotransferase deficiency, Gyrate atrophy of choroid and retina, OAT deficiency, OKT deficiency, Ornithine ketoacid transaminase deficiency, Ornithine-delta-aminotransferase deficiency, Ornithine-oxo-acid amino acid transferase deficiency, Hyperornithinaemia, OAT - Ornithine oxo-acid aminotransferase deficiency, Hyperornithinemia (disorder), Ornithine oxo-acid aminotransferase deficiency (disorder), ornithinemia, Ornithine oxo-acid aminotransferase deficiency [Ambiguous], Deficiency of ornithine-oxo-acid aminotransferase (disorder), Deficiency of ornithine-oxo-acid aminotransferase
Spanish deficiencia de ornitina - oxo - ácido aminotransferasa (trastorno), deficiencia de ornitina - oxo - ácido aminotransferasa, Ornithine oxo-acid aminotransferase deficiency, Ornithine oxo-acid aminotransferase deficiency [Ambiguous], deficiencia de ornitina - delta - aminotransferasa, deficiencia de ornitina - oxo - ácido - aminoácido transferasa, deficiencia de ornitina aminotransferasa (trastorno), deficiencia de ornitina aminotransferasa, deficiencia de ornitina cetoácido transaminasa, deficiencia de ornitina oxo-ácido aminotransferasa, deficiencia de transaminasa cetoácida de ornitina, hiperornitinemia (trastorno), hiperornitinemia
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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