A retrospective study on biotinidase deficiency: analysis of the Eastern Anatolia region patient cohort.

IF 1.3 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2024-10-25 DOI:10.1080/00365513.2024.2420320
Oğuzhan Yaralı, Sezai Arslan, Özge Beyza Gündoğdu Öğütlü, Mustafa Can Guler, Büşra Nur Akgül
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Abstract

ABTRACTThis study retrospectively reviews individuals diagnosed with biotinidase deficiency in Eastern Anatolia to analyze the genetic variants and their relationship with biotinidase activity levels. The research focuses on determining the percentage impact of different variants on enzyme activity. The study included 357 patients who presented to Erzurum City Hospital with symptoms of biotinidase deficiency between 2018 and 2023 and were referred to the medical genetics department. Biotinidase enzyme levels were determined using spectrophotometric and colorimetric techniques, while Sanger sequencing analyzed the four exons and intron boundaries of the BTD gene. In the analysis of 357 patients (181 boys, 176 girls), the most frequent variant was c.1270G > C | p.Asp424His. Biotinidase enzyme activity was above 30% in 97.3% of patients with a homozygous p.D424His mutation. The mutations that caused the most significant decrease in enzyme activity were c.410G > A p.Arg137His, c.38_delinsTCC p.Cys13phefs*36, and c.1535C > T p.Thr512Met. Hearing loss (4 patients) and optic atrophy (1 patient) were mainly observed in patients with the c.38_delinsTCC mutation (homozygous or heterozygous). Most patients were asymptomatic, and mild symptoms were effectively prevented with biotin treatment. This study provides a detailed analysis of genetic diversity and clinical presentation in biotinidase deficiency cases in Eastern Anatolia, demonstrating the efficacy of biotin treatment. It highlights the significant role of genetic variants in phenotypic diversity and the need for personalized treatment, calling for further genetic research to enhance understanding of variant diversity and its impact on enzyme activity.

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生物素酶缺乏症回顾性研究:东安纳托利亚地区患者队列分析。
摘要本研究回顾了东安纳托利亚地区被诊断为生物素酶缺乏症的个体,分析了基因变异及其与生物素酶活性水平的关系。研究重点是确定不同变体对酶活性的影响百分比。研究纳入了2018年至2023年期间因生物素酶缺乏症状到埃尔祖鲁姆市医院就诊并转诊至医学遗传学部门的357名患者。采用分光光度法和比色法测定了生物素酶的酶水平,同时对 BTD 基因的四个外显子和内含子边界进行了 Sanger 测序分析。在对 357 名患者(181 名男孩,176 名女孩)的分析中,最常见的变异是 c.1270G > C | p.Asp424His。97.3% 的同源 p.D424His 突变患者的生物素酶活性高于 30%。导致酶活性显著下降的突变是 c.410G > A p.Arg137His、c.38_delinsTCC p.Cys13phefs*36 和 c.1535C > T p.Thr512Met。听力损失(4 名患者)和视神经萎缩(1 名患者)主要出现在 c.38_delinsTCC 突变(同卵或异卵)的患者中。大多数患者无症状,生物素治疗可有效预防轻微症状。这项研究详细分析了东安纳托利亚地区生物素酶缺乏症病例的遗传多样性和临床表现,证明了生物素治疗的有效性。它强调了基因变异在表型多样性中的重要作用以及个性化治疗的必要性,呼吁进一步开展基因研究,以加深对变异多样性及其对酶活性影响的了解。
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来源期刊
CiteScore
3.50
自引率
4.80%
发文量
85
审稿时长
4-8 weeks
期刊介绍: The Scandinavian Journal of Clinical and Laboratory Investigation is an international scientific journal covering clinically oriented biochemical and physiological research. Since the launch of the journal in 1949, it has been a forum for international laboratory medicine, closely related to, and edited by, The Scandinavian Society for Clinical Chemistry. The journal contains peer-reviewed articles, editorials, invited reviews, and short technical notes, as well as several supplements each year. Supplements consist of monographs, and symposium and congress reports covering subjects within clinical chemistry and clinical physiology.
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