Article
A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report.
BMC medical genetics - 10 Apr 2018
Yu Rentao, Guo Yanzhi, Dan Yunjie, Tan Wenting, Mao Qing, Deng Guohong
Abstract excerpt
BACKGROUND: Butyrylcholinesterase (BChE), an ester hydrolase produced mainly by the liver, hydrolyzes certain short-acting neuromuscular blocking agents, like succinylcholine and mivacurium that are widely used during anesthesia. Patients with BChE deficiency are possibly in danger of postanesthetic apnea. Hereditary BChE deficiency results from the mutations of BCHE gene located on chromosome 3, 3q26.1-q26.2,...
Topics
- Adolescent
- Apnea
- Butyrylcholinesterase
- Exons
- Genetic Predisposition to Disease
- Heterozygote
- Humans
- Intellectual Disability
- Male
- Metabolism, Inborn Errors
- Mutation
- Pedigree
- Phenotype
- Sequence Analysis, DNA