生物素酶缺陷症

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

临床表型 38

近两年的全球研究 250L2

2024/10 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。

• 2026-11开放获取
  Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method
  Journal of inherited metabolic disease · DOI · Europe PMC
• 2026-09
  Precision diagnosis guides ketogenic diet therapy in inherited metabolic epilepsies: Concurrent non-ketotic hyperglycinemia and biotinidase deficiency
  European journal of clinical nutrition · DOI · Europe PMC
• 2026-09开放获取
  Population-Specific Carrier Frequencies in an Underrepresented Genetically Heterogeneous Population: Implications for Expanded Carrier Screening
  Genes · DOI · Europe PMC
• 2026-09
  Current management of biotinidase deficiency following newborn screening in Italy: evidence from a clinical nationwide survey
  Molecular genetics and metabolism · DOI · Europe PMC
• 2026-09病例报告开放获取
  Biochemical and Clinical Characterization of a Patient with Partial Biotinidase Deficiency Carrying the Rare BTD c.690C>G (p.Phe230Leu) Variant: A Case Report
  Life (Basel, Switzerland) · DOI · Europe PMC
• 2026-09开放获取
  Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye
  Molecular genetics and metabolism reports · DOI · Europe PMC
• 2026-09开放获取
  Newborn screening in Karnataka: A scoping review of the landscape
  PLOS global public health · DOI · Europe PMC
• 2026-09病例报告
  Neonatal Corneal Clouding as the Initial Manifestation of Biotinidase Deficiency
  Journal of pediatric ophthalmology and strabismus · DOI · Europe PMC
• 2026-08开放获取
  Citywide implementation of a rapid whole-genome sequencing program for critically ill pediatric patients
  Nature medicine · 被引 1 · DOI · Europe PMC
• 2026-08综述开放获取
  Metabolic Outputs of the Gut Microbiome: Implications for Epilepsy
  Cells · DOI · Europe PMC
• 2026-08开放获取
  The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening
  International journal of neonatal screening · DOI · Europe PMC
• 2026-08综述开放获取
  Use of Fluid Biomarkers in NMOSD and MOGAD: Clinical and Research Applications
  Neurology(R) neuroimmunology & neuroinflammation · DOI · Europe PMC
• 2026-08综述病例报告
  A Case Report and a Review of TRAPPC4-Related TRAPPopathy
  International journal of developmental neuroscience : the official jou · DOI · Europe PMC
• 2026-08
  Managing Pregnancy in Inherited Metabolic Disorders: Experience From a Single Tertiary Metabolic Center
  The journal of obstetrics and gynaecology research · DOI · Europe PMC
• 2026-07病例报告开放获取
  Characterization of a Novel BTD Hypomorphic Variant in a Patient with Complex Neurodevelopmental Delay: Resolving Actionable Metabolic Vulnerabilities Beyond Borderline Plasma Biochemistry
  International journal of molecular sciences · DOI · Europe PMC
• 2026-07开放获取
  Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort
  Children (Basel, Switzerland) · DOI · Europe PMC
• 2026-07开放获取
  Carrier frequency of autosomal recessive monogenic disorders in the peruvian population
  Frontiers in genetics · DOI · Europe PMC
• 2026-07开放获取
  Mapping Rare Disease Registries in Brazil: Situational Analysis and Proposal for National Unification
  Journal of medical systems · DOI · Europe PMC
• 2026-07病例报告
  A Short Indel is Causing Biotinidase Deficiency in a 4-Month-Old Boy from Jammu and Kashmir
  Genetic testing and molecular biomarkers · DOI · Europe PMC
• 2026-07开放获取
  Genetic ancestry and monogenic disease risk in the Scottish Traveller founder population
  Nature communications · DOI · Europe PMC

中国境外的在招试验 1L2

共 1 项。

• 招募中NCT06723925
  Neonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-up
  观察性 · 2021/04/21IRCCS Azienda Ospedaliero-Universitaria di Bologna
  意大利

外部标识与链接