| Entry |
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| Name |
Methemoglobinemia
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| Description |
Hereditary methemoglobinemia is an autosomal recessive disorder characterized by NADH-cytochrome b5 reductase deficiency.
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| Category |
Hematologic disease
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| Pathway |
| Amino sugar and nucleotide sugar metabolism |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Percy MJ, Lappin TR |
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| Title |
Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency. |
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| Journal |
Br J Haematol 141:298-308 (2008) |
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| Reference |
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| Authors |
Ewenczyk C, Leroux A, Roubergue A, Laugel V, Afenjar A, Saudubray JM, Beauvais P, Billette de Villemeur T, Vidailhet M, Roze E |
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| Title |
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum. |
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| Journal |
Brain 131:760-1 (2008) |
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| Reference |
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| Authors |
Kobayashi Y, Fukumaki Y, Yubisui T, Inoue J, Sakaki Y |
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| Title |
Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type. |
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| Journal |
Blood 75:1408-13 (1990) |
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| Reference |
|
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| Authors |
Giordano SJ, Kaftory A, Steggles AW |
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| Title |
A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism. |
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| Journal |
Hum Genet 93:568-70 (1994) |
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