title: Congenital cyanosis due to methemoglobin reductase deficiency: first reported Tunisian case.
abstract: During investigation of chronic cyanosis in a 25 year old male, after excluding pulmonary and cardiac causes, methemoglobinemia was suspected. Investigation of the activity of methemoglobin reductase clenched the diagnosis of homozygous cytochrome b5 reductase deficiency in a case of recessive congenital methemoglobin type I (absence of neurologic symptoms).
authors.affiliation: Hôpital Aziza Othmana, Service d'Hématologie, Tunis, Tunisie.
authors.forename: R
authors.initials: R
authors.lastname: Hafsia
authors.forename: B
authors.initials: B
authors.lastname: Meddeb
authors.forename: B
authors.initials: B
authors.lastname: Mtimet
authors.forename: A
authors.initials: A
authors.lastname: Hafsia
authors.forename: F
authors.initials: F
authors.lastname: Galactéros
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
authors.forename: M
authors.initials: M
authors.lastname: Boussen
mesh_terms: D000328:Adult; D003490:Cyanosis / Q000151:congenital* / Q000201:enzymology; D003579:Cytochrome Reductases; D042966:Cytochrome-B(5) Reductase / Q000172:deficiency*; D006720:Homozygote; D006801:Humans; D008297:Male; D009247:NADH, NADPH Oxidoreductases; D014416:Tunisia
chemical_list: D009247:NADH, NADPH Oxidoreductases; D003579:Cytochrome Reductases; D042966:Cytochrome-B(5) Reductase