KEGG   DISEASE: H00235Help
Entry
H00235                      Disease                                

Name
Methemoglobinemia
Description
Hereditary methemoglobinemia is an autosomal recessive disorder characterized by NADH-cytochrome b5 reductase deficiency.
Category
Hematologic disease
BRITE hierarchy
Pathway
Amino sugar and nucleotide sugar metabolism
Gene
CYB5R3 [HSA:1727] [KO:K00326]
CYB5A [HSA:1528]
Other DBs
ICD-10: 
OMIM: 
Reference
  Authors
Percy MJ, Lappin TR
  Title
Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.
  Journal
Br J Haematol 141:298-308 (2008)
Reference
  Authors
Ewenczyk C, Leroux A, Roubergue A, Laugel V, Afenjar A, Saudubray JM, Beauvais P, Billette de Villemeur T, Vidailhet M, Roze E
  Title
Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.
  Journal
Brain 131:760-1 (2008)
Reference
PMID:2107882
  Authors
Kobayashi Y, Fukumaki Y, Yubisui T, Inoue J, Sakaki Y
  Title
Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type.
  Journal
Blood 75:1408-13 (1990)
Reference
PMID:8168836
  Authors
Giordano SJ, Kaftory A, Steggles AW
  Title
A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism.
  Journal
Hum Genet 93:568-70 (1994)

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