Inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia.

  • Autosomal recessive inheritance


Type I citrullinemia or classic citrullinemia

  • Comprised of:
    • Acute neonatal citrullinemia type I
    • Adult-onset citrullinemia type I

Type II citrullinemia

  • Comprised of:
    • Adult-onset citrullinemia type II
    • Neonatal intrahepatic cholestasis (due to citrin deficiency)

Clinical features

Neonatal hyperammonemic encephalopathy:

  • Type I: Lethargy, poor feeding, vomiting, seizures, and loss of consciousness
  • Type II: Confusion, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma


Dietary management

  • Low protein diets (minimize ammonia production)

Medical management

  • Arginine, sodium benzoate, sodium phenylacetate
    • Help to remove ammonia from the blood
  • Dialysis

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