半乳糖血症

定义 英文原文（暂无中文）

A group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a wide range of variable manifestations.

基本事实

遗传方式

常染色体隐性

发病年龄

儿童期、婴儿期、新生儿期

患病率

1-9 / 100 000（Europe）

相关基因 3来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

近两年的全球研究 736L2

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。

• 2026-10系统综述开放获取
  The Psychosocial Impact of Receiving Whole Genome and Whole Exome Sequencing Results in Adults: A Systematic Review
  Journal of genetic counseling · DOI · Europe PMC
• 2026-10综述开放获取
  Design rules for bioorthogonal glycan-based tools
  The Biochemical journal · DOI · Europe PMC
• 2026-09开放获取
  Galactokinase 1 Positively Regulates Mitochondrial Respiration by Phosphorylating TIMM13 as a Protein Kinase
  Advanced science (Weinheim, Baden-Wurttemberg, Germany) · DOI · Europe PMC
• 2026-09
  Pyridoxine supplementation amelioratesSGPL1 R222Q variant sphingosine phosphate lyase insufficiency syndrome in mice
  The Journal of clinical investigation · DOI · Europe PMC
• 2026-09开放获取
  A novel TYR variant implicated in oculocutaneous albinism type 1 (OCA1): a study in an indigenous population in Southern Brazil
  Journal of community genetics · DOI · Europe PMC
• 2026-09开放获取
  Prenatal consequences of GALT deficiency in a rat model of classic galactosemia
  PLoS genetics · DOI · Europe PMC
• 2026-09病例报告开放获取
  Memantine-Induced Cholestasis and Acute Hepatitis in an 8-Week-Old Term Infant
  ACG case reports journal · DOI · Europe PMC
• 2026-09病例报告开放获取
  A Rare Case of Neonatal-Onset Diarrhea Due to Congenital Tufting Enteropathy: Clinical, Histopathological, and Genetic Insights
  Reports (MDPI) · DOI · Europe PMC
• 2026-09病例报告
  A case of neonatal galactosemia presenting with rare hematologic problems: factor V deficiency and hemophagocytic lymphohistiocytosis
  The Turkish journal of pediatrics · 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综述开放获取
  Progress and Prospects of Newborn Screening in China
  International journal of neonatal screening · DOI · Europe PMC
• 2026-09综述
  Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency
  Journal of inherited metabolic disease · 被引 1 · DOI · Europe PMC
• 2026-09开放获取
  Mapping ovarian cellular and molecular landscape across the lifespan of women: a scoping review
  Human reproduction update · DOI · Europe PMC
• 2026-09开放获取
  Can the Use of Closed Incision Negative Pressure Wound Therapy in Immediate Prepectoral Breast Reconstruction With Polyurethane-Coated Implants Reduce the Rate of Early Complications?: A Comparative Study
  Aesthetic surgery journal · 被引 1 · DOI · Europe PMC
• 2026-08开放获取
  Selenium Concentration and Speciation in Formulae for Infants: Implications for Infant Health
  Foods (Basel, Switzerland) · DOI · Europe PMC
• 2026-08开放获取
  Declared Inactive Ingredients in US Oral Drug Listings: A Reproducible Census of Prevalence, Labeling Coverage, and Within-Name Variation
  Cureus · DOI · Europe PMC
• 2026-08开放获取
  Clinically Diagnosed Decompensated Chronic Liver Disease With Suspected Portal Hypertension in a One-Year-Old Infant: Diagnostic Challenges in a Resource-Limited Setting
  Clinical case reports · DOI · Europe PMC
• 2026-08综述开放获取
  Hormone therapy (HT) in women with premature ovarian insufficiency or early menopause: Time to think of a new paradigm for healthy aging. A joint FIGO and IMS position paper
  International journal of gynaecology and obstetrics: the official orga · DOI · Europe PMC
• 2026-08随机对照试验开放获取
  Effect of Semaglutide on the Inflammatory Biomarker High-Sensitivity CRP in Patients With Established Cardiovascular Disease and Overweight or Obesity in SELECT: A Prespecified Secondary Analysis
  Circulation · 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

境外已获批用于本病的药物 0L2

欧盟与美国均未检索到已获批用于本病的药物。

数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

中国境外的在招试验 2L2

共 2 项。

• 招募中NCT07461519
  Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
  观察性 · 2025/02/12IRCCS Azienda Ospedaliero-Universitaria di Bologna
  意大利
• 招募中NCT04948658
  Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy
  观察性 · 2021/09/13Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  美国

外部标识与链接