title: Congenital methaemoglobinaemia due to NADH methaemoglobin reductase deficiency: successful treatment with oral riboflavin.
abstract: A Japanese family with congenital methaemoglobinaemia is described. The family pedigree was compatible with autosomal recessive type of inheritance. The increased methaemoglobin concentration was ascribed to the red cell NADH diaphorase deficiency associated with the almost complete lack of one of the two peaks of the diaphorase activity as separated by DEAE Sephadex column chromatography. The NADH diaphorase and NADH methaemoglobin reductase deficiency was limited to the red cells. The methaemoglobin content in the blood of the propositus was 17.8% and isoelectric focusing analysis on a polyacrylamide gel plate showed that the haemoglobin consisted of 65.2% oxyhaemoglobin (alpha 2+ beta 2+)2, 29.6% half-oxidized forms, 20.9% (alpha 3+ beta 2+)2 and 8.7% (alpha 2+ beta 3+)2, and 3% full-oxidized methaemoglobin (alpha 3+ beta 3+)2. Oral administration of riboflavin 120 mg/d resulted in a gradual but significant decrease in the level of the met-form haemoglobins in parallel with a gradual increase in the red cell flavin content. Riboflavin is considered to be effective by activating the NADPH diaphorase (NADPH flavin reductase) system and appears to be useful for the treatment of congenital methaemoglobinaemia.
mesh_terms: D000284:Administration, Oral; D000328:Adult; D042966:Cytochrome-B(5) Reductase / Q000172:deficiency*; D008058:Dihydrolipoamide Dehydrogenase / Q000172:deficiency; D005260:Female; D005415:Flavins / Q000097:blood; D006801:Humans; D008297:Male; D008708:Methemoglobinemia / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*; D012256:Riboflavin / Q000008:administration & dosage / Q000627:therapeutic use*
chemical_list: D005415:Flavins; D009247:NADH, NADPH Oxidoreductases; D042966:Cytochrome-B(5) Reductase; D008058:Dihydrolipoamide Dehydrogenase; D012256:Riboflavin