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Ornithine Transcarbamylase DeficiencyAka: Hyperornithinemia

See Also
1. Inborn Errors of Metabolism
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
Signs: Girl (mild signs due to heterozygous)
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
References
1. Raghuveer (2006) Am Fam Physician 73:1981

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