KEGG DISEASE: ブチリルコリンエステラーゼ欠損症

DISEASE: ブチリルコリンエステラーゼ欠損症

エントリ

H02432

名称

ブチリルコリンエステラーゼ欠損症

概要

Hereditary Butyrylcholinesterase deficiency (BCHED) results from the mutations of BCHE gene. Butyrylcholinesterase is an ester hydrolase produced mainly by the liver, hydrolyzes certain short-acting neuromuscular blocking agents, like succinylcholine and mivacurium that are widely used during anesthesia. Patients with BCHED are possibly in danger of postanesthetic apnea.

カテゴリ

先天性代謝異常症

階層分類

ICD-11 による疾患分類 [BR:jp08403]
05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C59  神経伝達物質代謝の先天性異常
     H02432  ブチリルコリンエステラーゼ欠損症

病因遺伝子

BCHE [HSA:590] [KO:K01050]

リンク

ICD-11:

ICD-10:

MeSH:

OMIM:

文献

PMID:1570838

著者

Bartels CF, Jensen FS, Lockridge O, van der Spek AF, Rubinstein HM, Lubrano T, La Du BN

タイトル

DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites.

雑誌

Am J Hum Genet 50:1086-103 (1992)

文献

PMID:12881446

著者

Yen T, Nightingale BN, Burns JC, Sullivan DR, Stewart PM

タイトル

Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population.

雑誌

Clin Chem 49:1297-308 (2003)
DOI:10.1373/49.8.1297

文献

PMID:25264279

著者

Delacour H, Lushchekina S, Mabboux I, Ceppa F, Masson P, Schopfer LM, Lockridge O

タイトル

Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), "silent" with mivacurium.

雑誌

Biochem Pharmacol 92:476-83 (2014)
DOI:10.1016/j.bcp.2014.09.014

文献

PMID:29631548

著者

Yu R, Guo Y, Dan Y, Tan W, Mao Q, Deng G

タイトル

A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report.

雑誌

BMC Med Genet 19:58 (2018)
DOI:10.1186/s12881-018-0561-5

» English version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (4)   
   PubMed (4)   
All databases (7)   

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