The extreme reduction in cholinesterase caused by compound heterozygous mutations in the BCHE gene： A case report
Journal Title: Journal of Clinical Hepatology - Year 2024, Vol 40, Issue 10
Abstract
Serum cholinesterase （ChE） level is important for the diagnosis and prognostic evaluation of various diseases such as liver diseases and toxic diseases， and butyrylcholinesterase （BuChE） is an important component of ChE. Mutations in the BCHE gene can cause a significant reduction in the level of BuChE， with extensive reports in European and American populations and relatively few reports in Eastern countries， particularly China. This study describes a male patient， aged 35 years， who was misdiagnosed with organophosphorus pesticide poisoning due to an extreme reduction in ChE level and was given detoxification therapy， but such diagnosis was excluded by various biochemical examinations. Finally whole-exome sequencing and Sanger sequencing revealed the complex heterozygous mutations of c.1027dup and c.401dup at exon 2 of the BCHE gene， and hereditary BuChE deficiency due to these mutations is the cause of the extreme reduction in ChE level.
Authors and Affiliations
Sa LYU, Bing ZHU, Tianjiao XU, Shaoli YOU
Keywords
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- EP ID EP751066
- DOI 10.12449/JCH241023
- Views 20
- Downloads 0
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