Evaluation of Adult Biotinidase Activity in Patients with Idiopathic Inflammatory Demyelinating Diseases

IF 0.5 4区医学 Q4 NEUROSCIENCES Neurochemical Journal Pub Date : 2024-05-24 DOI:10.1134/s1819712424010124

Ahmet Kasim Kilic, Aysegul Akkan Suzan

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Abstract

Delayed-onset biotinidase deficiency can mimic neuromyelitis optica spectrum disorders. We aimed to evaluate adult serum biotinidase activitiy in central nervous system idiopathic inflammatory demyelinating diseases. This cross-sectional study was conducted in our demyelinating diseases outpatient clinic between January and September 2021. Patients with diagnosis of multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD), radiologically isolated syndrome (RIS), or clinically isolated syndrome (CIS) were recruited. Patients’ demographic, clinical, laboratory, and radiological data were noted. Serum biotinidase activitiy were determined by enzymatic analysis. In line with the recommendation of the American College of Medical Genetic guide, the average adult biotidinase activity value was obtained in 100 healthy adults (9.61 nmol/mL/min) for our laboratory and this value was taken as a reference in our study. There were 187 participants (72% were female, mean age: 35.4 ± 9.3 years). In terms of biotinidase activity, there was no significant difference between MS, NMOSD, RIS, CIS (p = 0.249). The patients’ biotinidase activity (mean 8.61) was lower than the reference healthy adult activity (mean 9.61), and 68% (n = 128) of the patients had low biotidinase activity. There were no significant differences between patients with low (n = 128) or normal (n = 59) biotinidase activity for optic neuritis and myelitis (p = 0.408, p = 0.164). We found no correlation between biotinidase activitiy with expanded disability status scale scores and number of magnetic resonance imaging lesions. This study suggested that patients with idiopathic inflammatory demyelinating diseases have lower biotinidase activitiy than healthy people. Determination of biotinidase activitiy and appropriate supplementation of biotine could improve clinical outcomes.

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评估特发性炎症性脱髓鞘疾病患者的成人生物素酶活性

摘要迟发性生物素酶缺乏症可模拟神经脊髓炎视网膜频谱疾病。我们旨在评估中枢神经系统特发性炎症性脱髓鞘疾病中成人血清生物素酶的活性。这项横断面研究于 2021 年 1 月至 9 月在我院脱髓鞘疾病门诊进行。研究招募了被诊断为多发性硬化症（MS）、神经脊髓炎视网膜频谱疾病（NMOSD）、放射学孤立综合征（RIS）或临床孤立综合征（CIS）的患者。研究人员记录了患者的人口统计学、临床、实验室和放射学数据。通过酶学分析测定血清生物素酶活性。根据美国医学遗传学院指南的建议，本实验室从 100 名健康成人中获得了成人生物素酶活性的平均值（9.61 nmol/mL/min），并将此值作为研究的参考值。共有 187 名参与者（72% 为女性，平均年龄：35.4 ± 9.3 岁）。在生物素酶活性方面，MS、NMOSD、RIS 和 CIS 之间没有显著差异（P = 0.249）。患者的生物素酶活性（平均值为 8.61）低于健康成人的参考值（平均值为 9.61），68%（n = 128）的患者生物素酶活性较低。生物素酶活性低（n = 128）或正常（n = 59）的视神经炎和脊髓炎患者之间没有明显差异（p = 0.408，p = 0.164）。我们发现生物素酶活性与残疾状况量表评分和磁共振成像病灶数量之间没有相关性。这项研究表明，特发性炎症性脱髓鞘疾病患者的生物素酶活性低于健康人。测定生物素酶的活性并适当补充生物素可改善临床疗效。

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来源期刊

Neurochemical Journal 医学-神经科学

自引率

20.00%

发文量

审稿时长

>12 weeks

期刊介绍： Neurochemical Journal (Neirokhimiya) provides a source for the communication of the latest findings in all areas of contemporary neurochemistry and other fields of relevance (including molecular biology, biochemistry, physiology, neuroimmunology, pharmacology) in an afford to expand our understanding of the functions of the nervous system. The journal presents papers on functional neurochemistry, nervous system receptors, neurotransmitters, myelin, chromaffin granules and other components of the nervous system, as well as neurophysiological and clinical aspects, behavioral reactions, etc. Relevant topics include structure and function of the nervous system proteins, neuropeptides, nucleic acids, nucleotides, lipids, and other biologically active components. The journal is devoted to the rapid publication of regular papers containing the results of original research, reviews highlighting major developments in neurochemistry, short communications, new experimental studies that use neurochemical methodology, descriptions of new methods of value for neurochemistry, theoretical material suggesting novel principles and approaches to neurochemical problems, presentations of new hypotheses and significant findings, discussions, chronicles of congresses, meetings, and conferences with short presentations of the most sensational and timely reports, information on the activity of the Russian and International Neurochemical Societies, as well as advertisements of reagents and equipment.