title: Heterogeneity of hereditary methaemoglobinaemia: a study of 4 Cuban families with NADH-Methaemoglobin reductase deficiency including a new variant (Santiago de Cuba variant).
abstract: NADH-methaemoglobin reductase deficiency has been found in 4 Cuban families; 3 subjects carried the mild form of the deficiency while in 2 sibs of the fourth family the deficiency was associated with neurological involvement. The parents in this family were consanguinous and the sibs were shown to be homozygous for a new fast electrophoretic variant. It was named Diaphorase Santiago de Cuba.
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003462:Cuba; D042966:Cytochrome-B(5) Reductase / Q000172:deficiency* / Q000235:genetics; D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000378:metabolism; D005980:Glutathione Reductase / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008708:Methemoglobinemia / Q000235:genetics*; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*; D010375:Pedigree; D010734:Phosphogluconate Dehydrogenase / Q000378:metabolism; D011770:Pyruvate Kinase / Q000378:metabolism
chemical_list: D010734:Phosphogluconate Dehydrogenase; D005954:Glucosephosphate Dehydrogenase; D009247:NADH, NADPH Oxidoreductases; D042966:Cytochrome-B(5) Reductase; D005980:Glutathione Reductase; D011770:Pyruvate Kinase