II. Epidemiology

  1. Most common urea cycle disorder
  2. Incidence: 1:70,000

III. Pathophysiology

  1. X-Linked disorder

IV. Signs: Boys (severe signs due to single X-Chromosome)

  1. Refractory Emesis
  2. Hyperammonemia
  3. Progressive encephalopathy

V. Signs: Girl (mild signs due to Heterozygous)

  1. Mild hyperammonemia
  2. May present with patient avoiding Protein in general

VI. 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

VII. Complications

  1. Hepatic failure

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