Alteration of NADH-diaphorase and cytochrome b5 reductase activities of erythrocytes, platelets, and leucocytes in hereditary methaemoglobinaemia with and without mental retardation.
NADH-diaphorase and cytochrome b5 reductase activities of platelets and leucocytes, as well as erythrocytes, were found to be deficient in a patient with hereditary methaemoglobinaemia associated with moderate mental retardation and non-progressive neurological disturbance, in which hyperactive reflexes and involuntary movements were notable. In another methaemoglobinaemic patient with no mental or neurological abnormalities, these enzyme activities were defective in erythrocytes but normal in platelets and leucocytes. The first case was a generalised cytochrome b5 reductase deficiency with non-progressive encephalopathy. It is suggested that the detection of cytochrome b5 reductase activity in platelets, in addition to that in leucocytes, is useful for the assessment of a generalised enzyme defect. Genetical involvement of the present cases is discussed in association with the diaphorase gene loci in humans.
D000293:Adolescent; D000328:Adult; D001792:Blood Platelets / Q000201:enzymology; D002874:Chromosome Mapping; D003579:Cytochrome Reductases / Q000172:deficiency*; D042966:Cytochrome-B(5) Reductase; D008058:Dihydrolipoamide Dehydrogenase / Q000172:deficiency*; D004589:Electrophoresis, Disc; D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000201:enzymology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008708:Methemoglobinemia / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree
D003579:Cytochrome Reductases; D042966:Cytochrome-B(5) Reductase; D008058:Dihydrolipoamide Dehydrogenase