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Butyrylcholinesterase deficiency MeSH Supplementary Concept Data 2024


MeSH Supplementary
Butyrylcholinesterase deficiency
Unique ID
C537417
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537417
Entry Term(s)
Acylcholine acylhydrolase deficiency
Apnea, Postanesthetic
Cholinesterase 2 Deficiency
Pseudocholinesterase E1 deficiency
Pseudocholinesterase deficiency
Succinylcholine Sensitivity
Suxamethonium Sensitivity
Registry Number
0
Heading Mapped to
*Apnea
Butyrylcholinesterase / *deficiency
*Metabolism, Inborn Errors
Frequency
51
Note
A hereditary autosomal recessive condition caused by mutations in the BCHE gene. Affected individuals exhibit prolonged apnea after administration of the muscle relaxant SUXAMETHONIUM in connection with surgical ANESTHESIA. However,since the activity of pseudocholinesterase in serum is low and its substrate behavior is atypical, there are no other symptoms in the absence of relaxant. OMIM: 177400
Date of Entry
2010/08/25
Revision Date
2015/08/17
Butyrylcholinesterase deficiency Preferred
Succinylcholine Sensitivity Related
Apnea, Postanesthetic Related
Pseudocholinesterase deficiency Related
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