BCHE encodes butyrylcholinesterase (602 aa). Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters Highest expression in Fallopian Tube (40.6 TPM) and Esophagus Muscularis (36.7 TPM).

Butyrylcholinesterase deficiency is associated with mutations in the BCHE gene on chromosome 3.

BCHE is classified as a druggable target (Druggable Genome and Enzyme categories) with score 3.9.

Genetic testing for BCHE is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for butyrylcholinesterase deficiency has been reported in the published literature.

Phenotype severity distribution: 1 very common feature, 1 common feature.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

13 publications have been identified in PubMed for butyrylcholinesterase deficiency. Research spans Case Report / Case Series (46%), Review / Meta-Analysis (38%), and Diagnostic / Biomarker (8%).

Recent Publications

• Snak de Souza CD (2026). [PMID: 42120224](https://pubmed.ncbi.nlm.nih.gov/42120224/). *Br J Anaesth*. [Review / Meta-Analysis]

• Trujillo R (2026). [PMID: 31082076](https://pubmed.ncbi.nlm.nih.gov/31082076/). *Unknown Journal*. [Review / Meta-Analysis]

• Schulze-Berge J (2025). [PMID: 40148900](https://pubmed.ncbi.nlm.nih.gov/40148900/). *J Med Case Rep*. [Case Report / Case Series]

• Tyler J (2025). [PMID: 40257830](https://pubmed.ncbi.nlm.nih.gov/40257830/). *J Am Acad Orthop Surg Glob Res Rev*. [Case Report / Case Series]

• Dingová D (2025). [PMID: 39836467](https://pubmed.ncbi.nlm.nih.gov/39836467/). *Am J Physiol Heart Circ Physiol*. [Basic Science / Preclinical]

• Nguyen JQ (2025). [PMID: 40778538](https://pubmed.ncbi.nlm.nih.gov/40778538/). *Pharmacotherapy*. [Review / Meta-Analysis]

• Celis V (2025). [PMID: 39331762](https://pubmed.ncbi.nlm.nih.gov/39331762/). *Neurodiagn J*. [Case Report / Case Series]

• Ho E (2025). [PMID: 40985564](https://pubmed.ncbi.nlm.nih.gov/40985564/). *A A Pract*. [Case Report / Case Series]

• Uzun DD (2025). [PMID: 40790181](https://pubmed.ncbi.nlm.nih.gov/40790181/). *BMC Pediatr*. [Case Report / Case Series]

• Tokunaga N (2025). [PMID: 39814397](https://pubmed.ncbi.nlm.nih.gov/39814397/). *Tohoku J Exp Med*. [Diagnostic / Biomarker]