KEGG   DISEASE: Methemoglobinemia
Entry
H00235                      Disease                                
Name
Methemoglobinemia
  Subgroup
Methemoglobinemia due to deficiency of methemoglobin reductase
Methemoglobinemia, alpha type
Methemoglobinemia, beta type
Methemoglobinemia and ambiguous genitalia (METAG)
Description
Hereditary methemoglobinemia is an autosomal recessive disorder characterized by NADH-cytochrome b5 reductase deficiency.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   3A91  Congenital methaemoglobinaemia
    H00235  Methemoglobinemia
   3A92  Hereditary methaemoglobinaemia
    H00235  Methemoglobinemia
Pathway
hsa00520  Amino sugar and nucleotide sugar metabolism
Gene
CYB5R3 [HSA:1727] [KO:K00326]
(alpha) HBA1 [HSA:3039] [KO:K13822]
(beta) HBB [HSA:3043] [KO:K13823]
(METAG) CYB5A [HSA:1528] [KO:K23490]
Drug
Methylene blue [DR:D02312]
Other DBs
ICD-11: 3A91 3A92
MeSH: C537841 C564192
OMIM: 250800 617971 617973 250790
Reference
PMID:18318771
  Authors
Percy MJ, Lappin TR
  Title
Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.
  Journal
Br J Haematol 141:298-308 (2008)
DOI:10.1111/j.1365-2141.2008.07017.x
Reference
PMID:18202104
  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)
DOI:10.1093/brain/awm337
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:13897827 (alpha, beta type)
  Authors
GERALD PS, EFRON ML
  Title
Chemical studies of several varieties of Hb M.
  Journal
Proc Natl Acad Sci U S A 47:1758-67 (1961)
DOI:10.1073/pnas.47.11.1758
Reference
PMID:8168836 (METAG)
  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)
DOI:10.1007/BF00202825

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Disease (4)   
   OMIM (4)   
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