Genotype–phenotype relationships in butyrylcholinesterase deficiency: a systematic review
Authors' conclusion
Genetic testing in suspected BChE deficiency provides valuable information beyond biochemical phenotyping, particularly in multi-allelic cases. Inhibition studies are insensitive to detecting variants with null or modest biological effects. Heterogeneity across studies precludes delivering a standardised diagnostic algorithm.
Study context
- Population
- Humans in studies reporting paired BCHE genotype and biochemical phenotype data (butyrylcholinesterase (BChE) deficiency)
- Participants
- 290 participants · 30 studies
- Comparison
- BCHE genotype vs biochemical phenotype
- Normaln = 92
- Atypicaln = 110
- Intermediaten = 66
- No measurable activityn = 22
- Outcome
- Paired BCHE genotype and biochemical phenotype (enzyme activity, dibucaine and fluoride numbers)
Methodological detailsJBI Critical Appraisal Tools used for quality assessment, PubMed, EMBASE and Cochrane Library searched, 1946-2024, Heterogeneity across studies
- JBI Critical Appraisal Tools used for quality assessment
- PubMed, EMBASE and Cochrane Library searched, 1946-2024
- Heterogeneity across studies
Pooled result
As reported in the abstract
Distribution of biochemical phenotypes
Further pooled results
- Carriage of at least one BCHE variant among normal phenotype
- 72% · 66 of 92
Genotype–phenotype associations
- Atypical phenotypes associated with reduced enzyme activity and carriage of multiple variants
- Absent activity: frameshift or nonsense variants
- Most frequent variants: A-variant (p.Asp98Gly) and K-variant (p.Ala567Thr)
Original publication
Genotype–phenotype relationships in butyrylcholinesterase deficiency: a systematic review. Br J Anaesth. Published 12 May 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →