KEGG   DISEASE: Butyrylcholinesterase deficiency
Entry
H02432                      Disease                                
Name
Butyrylcholinesterase deficiency
Description
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.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C59  Inborn errors of neurotransmitter metabolism
     H02432  Butyrylcholinesterase deficiency
Gene
BCHE [HSA:590] [KO:K01050]
Other DBs
ICD-11: 5C59.Y
ICD-10: E88.8
MeSH: C537417
OMIM: 617936
Reference
PMID:1570838
  Authors
Bartels CF, Jensen FS, Lockridge O, van der Spek AF, Rubinstein HM, Lubrano T, La Du BN
  Title
DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites.
  Journal
Am J Hum Genet 50:1086-103 (1992)
Reference
PMID:12881446
  Authors
Yen T, Nightingale BN, Burns JC, Sullivan DR, Stewart PM
  Title
Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population.
  Journal
Clin Chem 49:1297-308 (2003)
DOI:10.1373/49.8.1297
Reference
PMID:25264279
  Authors
Delacour H, Lushchekina S, Mabboux I, Ceppa F, Masson P, Schopfer LM, Lockridge O
  Title
Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), "silent" with mivacurium.
  Journal
Biochem Pharmacol 92:476-83 (2014)
DOI:10.1016/j.bcp.2014.09.014
Reference
PMID:29631548
  Authors
Yu R, Guo Y, Dan Y, Tan W, Mao Q, Deng G
  Title
A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report.
  Journal
BMC Med Genet 19:58 (2018)
DOI:10.1186/s12881-018-0561-5

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

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