{"title":"Evaluation of Adult Biotinidase Activity in Patients with Idiopathic Inflammatory Demyelinating Diseases","authors":"Ahmet Kasim Kilic, Aysegul Akkan Suzan","doi":"10.1134/s1819712424010124","DOIUrl":null,"url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>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 (<i>p</i> = 0.249). The patients’ biotinidase activity (mean 8.61) was lower than the reference healthy adult activity (mean 9.61), and 68% (<i>n</i> = 128) of the patients had low biotidinase activity. There were no significant differences between patients with low (<i>n</i> = 128) or normal (<i>n</i> = 59) biotinidase activity for optic neuritis and myelitis (<i>p</i> = 0.408, <i>p</i> = 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.</p>","PeriodicalId":19119,"journal":{"name":"Neurochemical Journal","volume":null,"pages":null},"PeriodicalIF":0.5000,"publicationDate":"2024-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurochemical Journal","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1134/s1819712424010124","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"NEUROSCIENCES","Score":null,"Total":0}
引用次数: 0
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.
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.
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