KEGG DISEASE: Methemoglobinemia

KEGG

DISEASE: Methemoglobinemia

Entry

H00235                      Disease

Name

Methemoglobinemia

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

Amino sugar and nucleotide sugar metabolism

Gene

CYB5R3 [HSA:1727] [KO:K00326]
CYB5A [HSA:1528] [KO:K23490]
HBA1 [HSA:3039] [KO:K13822]
HBB [HSA:3043] [KO:K13823]

Drug

Methylene blue [DR:D02312]

Other DBs

ICD-11:

ICD-10:

OMIM:

250800 250790 617971 617973

Reference

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

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

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

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

Reference

Authors

Mansouri A, Lurie AA

Title

Concise review: methemoglobinemia.

Journal

Am J Hematol 42:7-12 (1993)
DOI:10.1002/ajh.2830420104

LinkDB

» Japanese version

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