Cytochrome b5 reductase deficiency, an uncommon cause of cyanosis.
A patient with cyanosis due to methaemoglobinaemia caused by cytochrome b5 reductase deficiency is described. Investigation of his family confirmed transmission of this disorder as an autosomal recessive trait. The consequences of this rare condition are discussed.
Posthumus
M D
MD
Department of Rheumatology, Hospital Enschede, Netherlands.
van Berkel
W
W
D000368:Aged; D003490:Cyanosis / Q000201:enzymology / Q000209:etiology*; D003579:Cytochrome Reductases / Q000172:deficiency*; D042966:Cytochrome-B(5) Reductase; D006801:Humans; D008297:Male; D010375:Pedigree
D003579:Cytochrome Reductases; D042966:Cytochrome-B(5) Reductase