Conditions / Genetic

hyperargininemia

info · Genetic · ICD-10: E72.21

An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.

Signs and symptoms

  • Cholestasis
  • Cerebellar atrophy
  • Hepatomegaly
  • Spastic gait
  • Hyperammonemia
  • Frequent falls
  • Episodic vomiting
  • Portal fibrosis
  • Micronodular cirrhosis
  • Seizure

Medications that may treat it

pegzilarginase

Also known as: Arginase deficiency; argininemia; deficiency of canavanase