预约演示

更新于：2025-05-07

BTD

更新于：2025-05-07

基本信息

别名

Biotinase、biotinidase、BTD

简介

Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.

关联

项与 BTD 相关的药物

Acidomycin

靶点

BTD

作用机制

BTD inhibitors

在研机构-

原研机构

University of Minnesota

在研适应症-

非在研适应症

易感染结核分枝杆菌

最高研发阶段无进展

首次获批国家/地区-

首次获批日期1800-01-20

100 项与 BTD 相关的临床结果

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100 项与 BTD 相关的转化医学

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0 项与 BTD 相关的专利（医药）

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440

项与 BTD 相关的文献（医药）

2025-05-04·Neuro-Ophthalmology

Biotinidase Deficiency Induced Optic Neuropathy: A Case Report and Literature Review

Review

作者: Lee, Michael S. ; Rashidi, Vania ; Cao, Angela A. ; Rashidi, Anita M. ; Brown, Meghan M.

We report a case of a 19-year-old Somali American woman who presented with 6 months of progressive bilateral vision changes and ocular discharge, with systemic symptoms including angular cheilitis and dermatitis. The patient was evaluated with comprehensive ophthalmic examination, optical coherence tomography, corticospinal magnetic resonance imaging, and fundus imaging. Comprehensive ophthalmic examination revealed bilateral optic neuropathy. Laboratory testing showed a biotinidase level of <0.1 (normal, 5.5-10 nmol/min/ml). The patient was treated with oral biotin supplementation with improvement in her visual function. Furthermore, a review of the literature of reported cases of biotinidase deficiency optic neuropathy published between June 1987 and February 2024 revealed 40 cases. This entity presents more commonly in males (63%) (n = 27), with an average age of 11.7 ± 12.0 years (n = 35). Patients experienced symptoms for an average of 4.3 ± 8.3 years before they were correctly diagnosed (n = 25). Individuals had an average BCVA of 20/300 in the right eye and 20/250 in the left eye (n = 15) at the time of presentation. Additionally, 38.9% of patients had color vision deficits (n = 18), and 100% of patients had visual field deficits (n = 19). All patients were treated with oral biotin supplementation (n = 25). This case and review of the literature underscore that biotinidase deficiency should be considered in patients with bilateral and progressive optic neuropathy among young adults. Early diagnosis is important as biotin supplementation may halt and/or reverse the disease process.

2025-02-04·Cureus

Optimizing Biotinidase Activity Assays: Insights From Clinical and Laboratory Evaluation From a Low-Middle Income Country

Article

作者: Ghori, Sidra ; Khan, Nasir A ; Majid, Hafsa ; Khan, Aysha Habib ; Jafri, Lena ; Umer Naeem Effendi, Muhammad ; Jamil, Azeema ; Hashmi, Bilal ; Sarwar, Halima

Objective This study aimed to verify the methods used for biotinidase deficiency (BTD) assays, including fluorometric and colorimetric techniques, measure biotinidase (BT) activity in dried blood spots (DBS) and serum samples, and explore the clinical spectrum of patients with BTD based on low serum BT activity. Methods A cross-sectional study was conducted at the Newborn Screening Lab, Aga Khan University, Karachi, following ethical approval from August 2021 to December 2024. The study was conducted in three phases. Phase 1 consisted of verification of performance characteristics (precision, accuracy, analytical measurement range, and linearity), according to Clinical Laboratory Improvement Amendments standards, of DBS-BT activity using a fluorometric enzyme immunoassay method. In phase 2, a colorimetric assay verified the performance characteristics of serum BT activity. Clinical evaluation of serum BT was assessed using data collected from 2021 to 2024 in phase 3. Results Phase 1: Precision of the DBS-BT assay, performed using level one and two controls, was acceptable, with a low coefficient of variation (CV) of 5.6%. Accuracy with proficiency specimens showed 100% agreement and an excellent correlation (r = 0.98). Phase 2: Precision of serum BT assay, performed using level one control, was acceptable, with a low CV of 4.86%. Accuracy with proficiency specimens showed 100% agreement and a correlation of r = 0.97. Phase 3: Clinical performance of DBS-BT samples (n = 438) and serum BT samples (n = 228) were conducted during the third phase. Clinical evaluation of serum BT samples revealed that 12.7% (n = 29) showed low BT activity and were diagnosed with BTD. These cases (82%, n = 23) were diagnosed after the neonatal/infantile period. In these patients, seizures were the most common clinical symptom (62%, n = 18), and high consanguinity was observed in 15 (51.7%) patient families. Conclusion These findings highlight the robustness of both DBS and serum BT tests in terms of precision, accuracy, and linearity. For diagnosing BTD, serum BT showed a good clinical detection rate. The delayed diagnosis and high consanguinity were noted, which emphasizes the need for enhanced screening programs and awareness, particularly in populations with high rates of consanguineous marriages.

2025-01-21·Science Signaling

Biotin mitigates the development of manganese-induced, Parkinson’s disease–related neurotoxicity in Drosophila and human neurons

Article

作者: Reina-Gonzalez, Pablo ; Lai, Yunjia ; Sarkar, Souvarish ; Maor, Gali ; Miller, Gary W.

Chronic exposure to manganese (Mn) induces manganism and has been widely implicated as a contributing environmental factor to Parkinson’s disease (PD), featuring notable overlaps between the two in motor symptoms and clinical hallmarks. Here, we developed an adult Drosophila model of Mn toxicity that recapitulated key parkinsonian features, spanning behavioral deficits, neuronal loss, and dysfunctions in lysosomes and mitochondria. Metabolomics analysis of the brain and body tissues of these flies at an early stage of toxicity identified systemic changes in the metabolism of biotin (also known as vitamin B 7 ) in Mn-treated groups. Biotinidase-deficient flies showed exacerbated Mn-induced neurotoxicity, parkinsonism, and mitochondrial dysfunction. Supplementing the diet of wild-type flies with biotin ameliorated the pathological phenotypes of concurrent exposure to Mn. Biotin supplementation also ameliorated the pathological phenotypes of three standard fly models of PD. Furthermore, supplementing the culture media of human induced stem cells (iPSCs) differentiated midbrain dopaminergic neurons with biotin protected against Mn-induced mitochondrial dysregulation, cytotoxicity, and neuronal loss. Last, analysis of the expression of genes encoding biotin-related proteins in patients with PD revealed increased amounts of biotin transporters in the substantia nigra compared with healthy controls, suggesting a potential role of altered biotin metabolism in PD. Together, our findings identified changes in biotin metabolism as underlying Mn neurotoxicity and parkinsonian pathology in flies, for which dietary biotin supplementation was preventative.

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