生物素酶缺陷症
Biotinidase deficiency
定义 英文原文（暂无中文）
A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
别名
幼年型多发性羧化酶缺乏
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 青少年期、成年期、儿童期、婴儿期、新生儿期
- 患病率
- 1-9 / 100 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| BTD | biotinidase | Disease-causing germline mutation(s) in |
临床表型 38
极常见 99–80%3
- 循环生物素酶浓度降低 HP:0410145
- 代谢性酮症酸中毒 HP:0005979
- 有机酸尿症 HP:0001992
常见 79–30%8
- 免疫系统异常 HP:0002715
- 神经系统异常 HP:0000707
- 脑成像异常 HP:0410263
- 高氨血症 HP:0001987
- 肌张力减退 HP:0001252
- 癫痫发作 HP:0001250
- 感音神经性听力受损 HP:0000407
- 皮疹 HP:0000988
偶见 29–5%27
- 眼部异常 HP:0000478
- 脱发 HP:0001596
- 呼吸暂停 HP:0002104
- 共济失调 HP:0001251
- 双侧强直- 阵挛发作 HP:0002069
- 结膜炎 HP:0000509
- 湿疹样皮炎 HP:0000964
- 局灶性运动性癫痫发作 HP:0011153
- 全面性肌阵挛发作 HP:0002123
- 全面发育迟缓 HP:0001263
- 听力受损 HP:0000365
- 过度通气 HP:0002883
- 婴儿痉挛 HP:0012469
- 智力障碍 HP:0001249
- 喉喘鸣 HP:0006511
- 昏睡 HP:0001254
- 四肢肌肉无力 HP:0003690
- 脊髓病 HP:0002196
- 非进行性视力下降 HP:0200068
- 视神经萎缩 HP:0000648
- 视神经病变 HP:0001138
- 反复念珠菌感染 HP:0005401
- 反复真菌感染 HP:0002841
- 反复病毒感染 HP:0004429
- 呼吸窘迫 HP:0002098
- 盲点 HP:0000575
- 痉挛性双下肢瘫 HP:0002313
近两年的全球研究 233L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-08综述病例报告A Case Report and a Review of TRAPPC4-Related TRAPPopathy
- 2026-07A Short Indel is Causing Biotinidase Deficiency in a 4-Month-Old Boy from Jammu and Kashmir
- 2026-06开放获取Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis-Like Features: A Case Report and Literature Review
- 2026-06开放获取A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population
- 2026-06开放获取Biotinidase Activity Inhibition as a Biomarker of Effect to Mercury: Evidence from Amazonian Riverside Populations, In Vitro Assays, and In Silico Analyses
- 2026-06Acute Motor Axonal Neuropathy in Biotinidase Deficiency Complicated by Dietary Restriction
- 2026-06开放获取A National Overview of Nutritional Care in Diet-Treated Inborn Errors of Metabolism in Brazil
- 2026-06开放获取Carrier Frequencies of Medically Actionable Pathogenic Variants in the Russian Population
- 2026-05综述开放获取Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction
- 2026-05综述开放获取Natural Molecules for Brain Health and Resilience
- 2026-05开放获取Maternal concern and refusal toward neonatal heel-prick screening: a cross-sectional survey from Türkiye
- 2026-05综述开放获取Neurodegenerative Diseases in Children: A Comprehensive Review
- 2026-04开放获取Feelings, thoughts, and attitudes of pregnant women towards newborn heel blood screening test: a mixed-methods study
- 2026-04开放获取Perceived severity and parental distress after positive expanded newborn screening: parent-clinician concordance and dyadic processes
- 2026-04开放获取Benchmarking genetic birth prevalence estimates against newborn screening data
- 2026-04开放获取Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular Variants
- 2026-04开放获取Ontology-driven generation of parameters for health technology assessment models: a prompt engineering study
- 2026-04开放获取Prescribing practices of healthcare professionals regarding multivitamins and mineral supplements in Pakistan: a cross-sectional study
- 2026-04Auditory function at birth in infants with biotinidase deficiency
- 2026-04开放获取Does Capillary or Intravenous Collection of Dried Blood Spots Affect the Results of Amino Acid and Acylcarnitine Profile Studied with Tandem Mass Spectrometry?
中国境外的在招试验 1L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
意大利1
共 1 项。
- 招募中NCT06723925Neonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-up意大利
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）