Investigation of the effects of biotinidase deficiency on plasma cholinesterase activity

Year 2025, , 99 - 104, 01.01.2025

Mehmet Özcan , Özlem Öz , Müjgan Ercan

https://doi.org/10.31362/patd.1543033

Abstract

Purpose: Biotinidase deficiency (BD) is a rare autosomal recessive metabolic disorder that impairs the
body's ability to recycle biotin, a crucial coenzyme for carboxylase enzymes involved in various metabolic
processes. This study aims to evaluate the effects of biotinidase deficiency on cholinesterase activity in plasma,
hypothesizing that the metabolic disruptions caused by inadequate biotin recycling may lead to alterations in
cholinesterase function.
Materials and methods: Plasma samples were collected from 73 individuals categorized into four genetic
groups: wild type (n=12), heterozygous (n=30), homozygous (n=19), and compound heterozygous (n=12).
Cholinesterase activity was measured using a colorimetric method.
Results: The study discovered that the cholinesterase activity of the Heterozygous group was higher than the
homozygous group (p=0.0356). Additionally, cholinesterase activity was significantly lower in homozygous and
compound heterozygous people than in wild and heterozygous groups (p=0.0272). The statistically significant
changes suggested a relationship between biotinidase deficiency and altered cholinergic activity.
Conclusion: The findings indicate that biotinidase deficiency, particularly in its severe variants, may cause
considerable reductions in cholinesterase activity, contributing to the neurological symptoms found in affected
patients. More studies are needed to investigate the processes behind this association and develop strategies
for reducing the effects of BD on cholinesterase activity and neurological health.

Keywords

Biotinidase deficiency, cholinesterase, metabolic disorder

Biyotinidaz eksikliğinin plazma kolinesteraz aktivitesi üzerindeki etkilerinin araştırılması

Abstract

Amaç: Biotinidaz eksikliği (BD), vücudun çeşitli metabolik süreçlerde yer alan karboksilaz enzimleri için kritik
bir koenzim olan biotini geri dönüştürme yeteneğini bozan nadir bir otozomal resesif metabolik bozukluktur. Bu
çalışma, yetersiz biotin geri dönüşümünün neden olduğu metabolik bozulmaların kolinesteraz fonksiyonunda
değişikliklere yol açabileceği hipotezini test ederek, biotinidaz eksikliğinin plazmadaki kolinesteraz aktivitesi
üzerindeki etkilerini değerlendirmeyi amaçlamaktadır.
Gereç ve yöntem: Plazma örnekleri, yabanıl tip (n=12), heterozigot (n=30), homozigot (n=19) ve bileşik
heterozigot (n=12) olarak kategorize edilen 73 bireyden toplandı. Kolinesteraz aktivitesi kolorimetrik bir yöntem
kullanılarak ölçüldü.
Bulgular: Bu çalışmada, heterozigot grubun kolinesteraz aktivitesinin homozigot gruptan daha yüksek olduğu
bulundu (p=0,0356). Ek olarak, yabanıl tip ve heterozigot gruplarına kıyasla homozigot ve bileşik heterozigot
bireylerde kolinesteraz aktivitesinin önemli ölçüde azaldığı bulundu (p=0,0272). Farklılıklar istatistiksel olarak
anlamlıydı ve bu durum, biotinidaz eksikliği ile değişmiş kolinerjik fonksiyon arasında potansiyel bir bağlantıyı
işaret etmektedir.
Sonuç: Bulgular, özellikle ciddi formlarında biotinidaz eksikliğinin, kolinesteraz aktivitesinde önemli azalmalarla
sonuçlanabileceğini ve bu durumun etkilenen bireylerde gözlemlenen nörolojik semptomlara katkıda
bulunabileceğini düşündürmektedir. Bu ilişkiyi açıklamak ve BD'nin kolinesteraz aktivitesi ve nörolojik sağlık
üzerindeki etkilerini hafifletmeye yönelik terapötik stratejiler geliştirmek için daha fazla araştırmaya ihtiyaç vardır.

Keywords

Biyotinidaz eksikliği, kolinesteraz, metabolik bozukluk

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