Butyrylcholinesterase deficiency [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C537417
Heading Mapped to:
Entry Terms:
- Acylcholine acylhydrolase deficiency
- Pseudocholinesterase E1 deficiency
- Pseudocholinesterase deficiency
- Cholinesterase 2 Deficiency
- Apnea, Postanesthetic
- Succinylcholine Sensitivity
- Suxamethonium Sensitivity