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Deficiency of butyrylcholinesterase(BCHED)

MedGen UID:
220923
Concept ID:
C1283400
Disease or Syndrome
Synonyms: Acholinesterasemia; Acylcholine acylhydrolase deficiency; BCHE deficiency; BCHE, silent 1; BCHED; Butyrylcholinesterase deficiency; CHE1 deficiency; Deficiency of butyrylcholine esterase; Pseudocholinesterase E1 deficiency
SNOMED CT: Deficiency of butyrylcholinesterase (360619001); Deficiency of butyrylcholine esterase (360619001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): BCHE (3q26.1)
 
Monarch Initiative: MONDO:0015270
OMIM®: 617936
Orphanet: ORPHA132

Definition

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 (summary by Delacour et al., 2014). [from OMIM]

Additional description

From MedlinePlus Genetics
Pseudocholinesterase deficiency is a condition that results in increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. These fast-acting drugs, such as succinylcholine and mivacurium, are given to relax the muscles used for movement (skeletal muscles), including the muscles involved in breathing. The drugs are often employed for brief surgical procedures or in emergencies when a breathing tube must be inserted quickly. Normally, these drugs are broken down (metabolized) by the body within a few minutes of being administered, at which time the muscles can move again. However, people with pseudocholinesterase deficiency may not be able to move or breathe on their own for a few hours after the drugs are administered. Affected individuals must be supported with a machine to help them breathe (mechanical ventilation) until the drugs are cleared from the body.

People with pseudocholinesterase deficiency may also have increased sensitivity to certain other drugs, including the local anesthetic procaine, and to specific agricultural pesticides. The condition causes no other signs or symptoms and is usually not discovered until an abnormal drug reaction occurs.  https://medlineplus.gov/genetics/condition/pseudocholinesterase-deficiency

Clinical features

From HPO
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Sign or Symptom
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
  • Abnormality of the respiratory system

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeficiency of butyrylcholinesterase
Follow this link to review classifications for Deficiency of butyrylcholinesterase in Orphanet.

Professional guidelines

PubMed

Millet C, Plaud B, Delacour H
Anaesth Crit Care Pain Med 2021 Apr;40(2):100847. Epub 2021 Mar 24 doi: 10.1016/j.accpm.2021.100847. PMID: 33774263
Kaback M, Lopatequi J, Portuges AR, Quindipan C, Pariani M, Salimpour-Davidov N, Rimoin DL
Genet Med 2010 Oct;12(10):628-33. doi: 10.1097/GIM.0b013e3181edef5b. PMID: 20733503
Grossberg GT
Int Psychogeriatr 2002;14 Suppl 1:27-49. doi: 10.1017/s1041610203008652. PMID: 12636179

Recent clinical studies

Therapy

Geyer BC, Larrimore KE, Kilbourne J, Kannan L, Mor TS
PLoS One 2013;8(3):e59159. Epub 2013 Mar 11 doi: 10.1371/journal.pone.0059159. PMID: 23536865Free PMC Article

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