title: New variant of cytochrome b5 reductase deficiency (b5RKurashiki) in red cells, platelets, lymphocytes, and cultured fibroblasts with congenital methemoglobinemia, mental and neurological retardation, and skeletal anomalies.
abstract: A Japanese man with cytochrome b5 reductase (b5R) deficiency in various blood cell lineages (red cells, platelets, and lymphocytes) and in cultured fibroblasts demonstrated congenital methemoglobinemia associated with mental and neurological retardation, and various skeletal anomalies, such as spondylosis deformans and finger joint deformations, which have never been described in association with this enzyme deficiency. Cytochrome b5 reductase deficiency was most severe in red cells (0.3-4%) and less marked in platelets (13-27%), lymphocytes (18-31%), and fibroblasts (50%). The present case appears to be a new variant of cytochrome b5 reductase deficiency (b5RKurashiki).
authors.affiliation: Department of Medicine, Kawasaki Medical School, Kurashiki, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Yawata
authors.forename: L
authors.initials: L
authors.lastname: Ding
authors.forename: K
authors.initials: K
authors.lastname: Tanishima
authors.forename: A
authors.initials: A
authors.lastname: Tomoda
mesh_terms: D000328:Adult; D001792:Blood Platelets / Q000166:cytology / Q000201:enzymology*; D002478:Cells, Cultured; D003579:Cytochrome Reductases / Q000032:analysis / Q000172:deficiency* / Q000235:genetics*; D042966:Cytochrome-B(5) Reductase / Q000032:analysis; D008058:Dihydrolipoamide Dehydrogenase / Q000032:analysis; D004591:Electrophoresis, Polyacrylamide Gel; D004912:Erythrocytes / Q000166:cytology / Q000201:enzymology*; D005347:Fibroblasts / Q000166:cytology / Q000201:enzymology*; D005384:Finger Joint / Q000002:abnormalities; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology*; D008214:Lymphocytes / Q000166:cytology / Q000201:enzymology*; D008297:Male; D008708:Methemoglobinemia / Q000201:enzymology*; D009247:NADH, NADPH Oxidoreductases / Q000032:analysis; D010641:Phenotype; D013128:Spinal Osteophytosis / Q000201:enzymology*
chemical_list: D009247:NADH, NADPH Oxidoreductases; D003579:Cytochrome Reductases; D042966:Cytochrome-B(5) Reductase; C014227:ferricyanide reductase; D008058:Dihydrolipoamide Dehydrogenase