Arginase deficiency

Indian J Pediatr. 1997 Mar-Apr;64(2):266-9. doi: 10.1007/BF02752462.

Abstract

Hyperargininemia due to arginase deficiency is a rare, inherited, urea cycle disorder. We report a case of arginase deficiency in a 5-year old boy presenting with mild hyperammonemia, hyperargininemia, and dibasic aminoaciduria.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Genes, Recessive
  • Humans
  • Hyperargininemia* / diagnosis
  • Hyperargininemia* / genetics*
  • Male