NADH cytochrome B5 reductase deficiency

Common Name(s)

NADH cytochrome B5 reductase deficiency, Deficiency of cytochrome-b5 reductase

Methemoglobinemia due to NADH-cytochrome b5 reductase deficiency is an autosomal recessive disorder characterized clinically by decreased oxygen carrying capacity of the blood, with resultant cyanosis and hypoxia (review by {40:Percy and Lappin, 2008}). There are 2 types of methemoglobin reductase deficiency. In type I, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type II, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes, and all body tissues. Type II methemoglobinemia is associated with mental deficiency and other neurologic symptoms. The neurologic symptoms may be related to the major role played by the cytochrome b5 system in the desaturation of fatty acids ({53:Vives-Corrons et al., 1978}; {28:Kaplan et al., 1979}).
 

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Condition Specific Organizations

Following organizations serve the condition "NADH cytochrome B5 reductase deficiency" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "NADH cytochrome B5 reductase deficiency" returned 3 free, full-text research articles on human participants. First 3 results:

Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: putative mechanisms of tissue-dependent enzyme deficiency.
 

Author(s): T Katsube, N Sakamoto, Y Kobayashi, R Seki, M Hirano, K Tanishima, A Tomoda, E Takazakura, T Yubisui, M Takeshita

Journal: Am. J. Hum. Genet.. 1991 Apr;48(4):799-808.

 

We analyzed the NADH-cytochrome b5 reductase gene of hereditary methemoglobinemia type I and type III, by using PCR-related techniques. The mutation in type I is a guanine-to-adenine substitution in codon 57 of exon 3 of the NADH-cytochrome b5 reductase gene, and the sense of this ...

Last Updated: 15 May 1991

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Analyis of met-form haemoglobins in human erythrocytes of normal adults and of a patient with hereditary methaemoglobinaemia due to deficiency of NADH-cytochrome b5 reductase.
 

Author(s): A Tomoda, M Imoto, M Hirano, Y Yoneyama

Journal: Biochem. J.. 1979 Aug;181(2):505-7.

 

Isoelectric-focusing analysis on an Ampholine/polyacrylamide-gel plate revealed that met-form haemoglobins are present as half-oxidized haemoglobins such as the (alpha 2+ beta 3+)2 and (alpha 3+ beta2+)2 forms rather than as methaemoglobin in the erythrocytes of normal human adults ...

Last Updated: 20 Dec 1979

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Reviews from the PubMed Database

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The terms "NADH cytochrome B5 reductase deficiency" returned 0 free, full-text review articles on human participants.

 
 
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