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Congenital Recessive Methemoglobinemia Revealed in Adulthood: Description of a New Mutation in Cytochrome b5 Reductase Gene.

Hemoglobin - 1 Jan 2015

Forestier Alexandra, Pissard Serge, Cretet Justine, Mambie Adeline, Pascal Laurent, Cliquennois Manuel, Cambier Nathalie, Rose Christian

Abstract excerpt

Methemoglobinemia can be acquired (oxidizing drugs or chemicals products) or inherited either by mutations affecting globin chains [M hemoglobins (M Hbs)] or by defects in the enzymatic system involved in the reduction of spontaneous Hb oxidation: nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase. It is encoded by the CYB5R3 gene: there are two phenotypes of autosomal recessive congenital...

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PMID: 26291966
DOI: 10.3109/03630269.2015.1065882

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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