MeSH Browser

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
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 MeSH Supplementary Concept Data 2024