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Article

Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.

British journal of haematology - 1 May 2008

Percy Melanie J, Lappin Terry R

Abstract excerpt

Some 60 years ago, Quentin Gibson reported the first hereditary disorder involving an enzyme when he deduced that familial methaemoglobinaemia was caused by an enzymatic lesion associated with the glycolysis pathway in red blood cells. This disorder, now known as recessive congenital methaemoglobinaemia (RCM), is caused by NADH-cytochrome b5 reductase (cb(5)r) deficiency. Two distinct clinical forms, types I and...

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Identifiers

PMID: 18318771
DOI: 10.1111/j.1365-2141.2008.07017.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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