Butyrylcholinesterase Deficiency

Alternative Names

  • BCHED
  • Acholinesterasemia
  • Pseudocholinesterase Deficiency
  • Suxamethonium Sensitivity, Included
  • Apnea, Postanesthetic, Included
  • Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type, Included
  • Hypocholinesterasemia, Fluoride-Resistant, Japanese Type, Included

Associated Genes

Butyrylcholinesterase
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

617936

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3q26.1

Description

Individuals deficient in butyrylcholinesterase (BCHE) appear asymptomatic, apart from a heightened sensitivity to muscle relaxants such as suxamethonium (succinylcholine) and mivacurium, 2 BCHE carboxylester substrates. In individuals with usual BCHE levels, these drugs are rapidly hydrolyzed in plasma and their duration of action is short (less than 10 minutes). BCHE deficiency results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. Prolonged neuromuscular block occurs with BCHE deficiencies of marked severity (impairment over 70%). Although many acquired conditions may affect BCHE activity (e.g., liver or renal diseases, malnutrition, pregnancy, malignancy), BCHE deficiency is mainly due to mutations in the BCHE gene. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
617936.1United Arab EmiratesNM_000055.4:c.293A>GHomozygousAutosomal, RecessiveAl-Shamsi et al. 2014
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