A likely pathogenic variant in the <i>Butyrylcholinesteras</i>e gene was found in an agricultural engineer with a low pseudocholine level

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.

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Publication Details

Journal
Global Journal of Health Sciences and Research
Published
2025-05-02
DOI
https://doi.org/10.25259/gjhsr_4_2025
Primary Topic
Cholinesterase and Neurodegenerative Diseases
Type
article
Field-Weighted Citation Impact
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article

A likely pathogenic variant in the Butyrylcholinesterase gene was found in an agricultural engineer with a low pseudocholine level

Seval Müzeyyen Ecin, Burak Başer
Global Journal of Health Sciences and Research
Cholinesterase and Neurodegenerative Diseases
article

A likely pathogenic variant in the Butyrylcholinesterase gene was found in an agricultural engineer with a low pseudocholine level

Seval Müzeyyen Ecin, Burak Başer
article en

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.

Global Journal of Health Sciences and ResearchVol. 0
Mersin Üniversitesi (TR)
Openalex Percentile: Top 89%
Cholinesterase and Neurodegenerative Diseases
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