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.
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