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Prepublished online as a Blood First Edition Paper on July 5, 2002; DOI 10.1182/blood-2002-05-1405. This Article Full Text (PDF) All Versions of this Article: 2002-05-1405v1 100/10/3447    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Percy, M. J Articles by Lappin, T. R J Search for Related Content PubMed PubMed Citation Articles by Percy, M. J Articles by Lappin, T. R J Social Bookmarking                   What's this? Submitted May 14, 2002 Accepted June 18, 2002 Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase Melanie J Percy*, Matthew J S Gillespie, Geraldine Savage, Anne E Hughes, Mary Frances McMullin, and Terence R J Lappin Department of Haematology, Belfast City Hospital, Belfast, Northern Ireland, United Kingdom Department of Haematology, Royal Victoria Hospital, Belfast, Northern Ireland, United Kingdom Department of Medical Genetics, Queen's University, Belfast, Northern Ireland, United Kingdom Department of Haematology, Queen's University, Belfast, Northern Ireland, United Kingdom * Corresponding author; email: melanie.percy{at}bll.n-i.nhs.uk. In 1943 the first discription of familial idiopathic methemoglobinemia in the United Kingdom was reported in 2 members of one family. Five years later, Quentin Gibson 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 methemoglobinemia (RCM) is caused by deficiency of NADH-cytochrome b5 reductase. One of the original propositi with the Type I disorder has now been traced. He was found to be a compound heterozygote harboring 2 previously undescribed mutations in exon 9, a point mutation G873A predicting a G291D substitution, and a 3bp in-frame deletion of codon 255 (GAG) predicting loss of glycine. A brother and surviving sister are heterozygous, each bearing one of the mutations. Thirty-three different mutations have now been recorded for RCM. The original authors' optimism that RCM would provide material for future genetic studies has been amply justified. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: C. Ewenczyk, A. Leroux, A. Roubergue, V. Laugel, A. Afenjar, J. M. Saudubray, P. Beauvais, T. B. de Villemeur, M. Vidailhet, and E. Roze Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum Brain, March 1, 2008; 131(3): 760 - 761. [Abstract] [Full Text] [PDF] S. Haymond, R. Cariappa, C. S. Eby, and M. G. Scott Laboratory Assessment of Oxygenation in Methemoglobinemia Clin. Chem., February 1, 2005; 51(2): 434 - 444. [Abstract] [Full Text] [PDF] W. E. Hurford and A. Kratz Case 23-2004 - A 50-Year-Old Woman with Low Oxygen Saturation N. Engl. J. Med., July 22, 2004; 351(4): 380 - 387. [Full Text] [PDF]

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