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Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase.

Blood - 15 Nov 2002

Percy Melanie J, Gillespie Matthew J S, Savage Geraldine, Hughes Anne E, McMullin Mary Frances, Lappin Terry R J

Abstract excerpt

In 1943, the first description of familial idiopathic methemoglobinemia in the United Kingdom was reported in 2 members of one family. Five years later, Quentin Gibson (then of Queen's University, Belfast, Ireland) correctly identified the pathway involved in the reduction of methemoglobin in the family, thereby describing the first hereditary trait involving a specific enzyme deficiency. Recessive congenital...

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Identifiers

PMID: 12393396
DOI: 10.1182/blood-2002-05-1405

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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