title: Heterogeneity of the molecular biology of methemoglobinemia: a study of eight consecutive patients.
abstract: Congenital methemoglobinemia can be caused by mutations involving five different genes. We studied the etiology and molecular biology of eight consecutive patients with methemoglobinemia. Four had b5R mutations; two were novel. A novel intronic mutation caused markedly reduced mRNA resulting in type II methemoglobinemia. Three patients had acquired methemoglobinemia without any b5R mutations.
authors.forename: Jey
authors.initials: J
authors.lastname: Maran
authors.forename: Yongli
authors.initials: Y
authors.lastname: Guan
authors.forename: Ching-Nan
authors.initials: CN
authors.lastname: Ou
authors.forename: Josef T
authors.initials: JT
authors.lastname: Prchal
mesh_terms: D019943:Amino Acid Substitution; D042966:Cytochrome-B(5) Reductase / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008012:Lidocaine / Q000009:adverse effects; D008297:Male; D008708:Methemoglobinemia / Q000139:chemically induced / Q000145:classification / Q000201:enzymology / Q000235:genetics*; D020125:Mutation, Missense; D017354:Point Mutation; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D012333:RNA, Messenger; D008012:Lidocaine; D042966:Cytochrome-B(5) Reductase