Leukocyte glutathione peroxidase deficiency in a male patient with chronic granulomatous disease

J Pediatr. 1976 Apr;88(4 Pt 1):581-3. doi: 10.1016/s0022-3476(76)80010-8.

Abstract

A male child with chronic granulomatous disease is described in whom glutathione peroxidase deficiency of leukocytes was identified. Stability and activity of G-6-PD and activity of NADPH oxidase were normal. The leukocytes of the parents showed intermediate activities of glutathione peroxidase, suggesting the possibility of autosomal recessive inheritance.

Publication types

  • Case Reports

MeSH terms

  • Genes, Recessive
  • Glucosephosphate Dehydrogenase / blood
  • Granulomatous Disease, Chronic / enzymology*
  • Granulomatous Disease, Chronic / genetics
  • Heterozygote
  • Hexosephosphates / metabolism
  • Humans
  • Infant
  • Leukocytes / enzymology*
  • Male
  • NADH, NADPH Oxidoreductases / blood
  • Peroxidases / deficiency*
  • Phagocyte Bactericidal Dysfunction / enzymology*
  • Phosphogluconate Dehydrogenase / blood

Substances

  • Hexosephosphates
  • Phosphogluconate Dehydrogenase
  • Glucosephosphate Dehydrogenase
  • Peroxidases
  • NADH, NADPH Oxidoreductases