A likely pathogenic variant in the Butyrylcholinesteras e gene was found in an agricultural engineer with a low pseudocholine level
Year: 2025
Type: article
Study design: Case Report
Abstract: Butyrylcholinesterase (BChE) can hydrolyze acetylcholine and partially replace it in case of acetylcholinesterase inhibition or deficiency. In this case report, we aimed to present a case who applied due to coincidental low pseudocholine esterase levels and had a BChE novel variant genetic deficiency, which was expected to be low due to her occupation. The patient was a 29-year-old female. She was admitted to the occupational medicine outpatient clinic for further examination and evaluation after a low level of pseudocholine esterase was detected in the pre-employment tests. The most common causes of low pseudocholine esterase levels are postnatal diseases, medications, and occupational exposures. Even in cases where occupational exposure is considered in the foreground, it should not be forgotten that the occupational anamnesis should be deepened and genetic deficiency may be in the back of our minds.
Authors: Seval Müzeyyen Ecin, Burak Baser
Institution: Mersin Şehir Eğitim ve Araştırma Hastanesi
Language: English
Subfield: Pharmacology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4410098057