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Article

Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.

Brain : a journal of neurology - 1 Mar 2008

Ewenczyk C, Leroux A, Roubergue A, Laugel V, Afenjar A, Saudubray J M, Beauvais P, Billette de Villemeur T, Vidailhet M, Roze E

Abstract excerpt

Type II recessive hereditary methaemoglobinaemia (RHM) is a rare disease due to generalized NADH-cytochrome b5 reductase (cytb5r) deficiency. It results in mild cyanosis and severe neurological impairment. The clinical features and long-term outcome are poorly documented, and there are no systematic reviews. We examined six cases of type II RHM, four of which were new, together with 45 previously published cases,...

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Identifiers

PMID: 18202104
DOI: 10.1093/brain/awm337

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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