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 712L2

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。

• 2026-07
  Novel Proactive Speech-Language Intervention Is More Effective Than Usual Care: Randomized Controlled Trial of Babble Boot Camp for Infants With Classic Galactosemia
  Journal of speech, language, and hearing research : JSLHR · DOI · Europe PMC
• 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
  Clinical case reports · DOI · Europe PMC
• 2026-06开放获取
  The relationship between appetite hormones and body mass index in children with intoxication type metabolic diseases
  Orphanet journal of rare diseases · DOI · Europe PMC
• 2026-06
  Reproductive potential in classical galactosemia: A case series based perspective
  European journal of obstetrics & gynecology and reproductive biology: · DOI · Europe PMC
• 2026-06
  Evaluation of Nutritional Habits and Quality of Life of Mothers of Children With Metabolic Diseases Requiring a Restricted Diet
  Clinical pediatrics · DOI · Europe PMC
• 2026-06开放获取
  Crossing paths: historical and philosophical perspectives on cancer and diabetes classifications
  History and philosophy of the life sciences · DOI · Europe PMC
• 2026-06开放获取
  A National Overview of Nutritional Care in Diet-Treated Inborn Errors of Metabolism in Brazil
  International journal of environmental research and public health
• 2026-06综述开放获取
  Importance of Recognizing Renal Tubular Disorders as a Cause of Bone Hypomineralization and Fractures in Adults
  Diagnostics (Basel, Switzerland)
• 2026-06开放获取
  Diosgenin Attenuates Photoreceptor Degeneration in an N-Methyl-N-Nitrosourea-Induced Mouse Model of Retinal Degeneration
  Investigative ophthalmology & visual science · DOI · Europe PMC
• 2026-06开放获取
  Bone mineral density in adolescents and young women with hypogonadism: a DXA-based comparative analysis
  Journal of the Turkish German Gynecological Association · DOI · Europe PMC
• 2026-06开放获取
  Association of vitamin B1/B6/B12 supplementation with sphingosine-1-phosphate signaling and its receptors in multiple sclerosis patients: relevance to LISPR1 and APOA1-AS
  Bioscience reports · DOI · Europe PMC
• 2026-05
  Transcriptomic profiling of the ovarian immune landscape reveals distinct macrophage subsets and activation of the NLRP3 inflammasome likely contributing to accelerated follicular atresia in classic galactosemia
  Cell communication and signaling : CCS · DOI · Europe PMC
• 2026-05开放获取
  Newborn Screening for Spinal Muscular Atrophy in the Republic of Moldova: A Feasibility Study and First Steps
  International journal of neonatal screening · DOI · Europe PMC
• 2026-05开放获取
  Characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency in China: long-term follow-up outcomes
  Jornal de pediatria · DOI · Europe PMC
• 2026-05开放获取
  The Effect of Angiotensin (1-7) on Serum Metabolomics in Obese Type 2 Diabetic Mice
  Metabolites · DOI · Europe PMC
• 2026-05综述开放获取
  Policy Responses to the COVID-19 Pandemic in High-Income Countries and the Associated Maternal-Infant Health Outcomes: A Systematic Literature and Policy Review
  Health science reports · DOI · Europe PMC
• 2026-05开放获取
  Effectiveness and Safety of Bempedoic Acid in Taiwanese Patients With Hypercholesterolemia: A Pragmatic Phase 4 Study (CLEAR Taiwan Study)
  Journal of the American Heart Association · 被引 1 · DOI · Europe PMC
• 2026-05
  Optimising newborn screening for galactosaemia: reclassifying GALE and GALM deficiencies as non-target conditions to improve specificity
  Clinical chemistry and laboratory medicine · DOI · Europe PMC
• 2026-05综述开放获取
  Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction
  International journal of neonatal screening · DOI · Europe PMC
• 2026-05开放获取
  Wubie Fanchun Formula-inducible metabolites in primary ovarian insufficiency model mice that facilitate ovarian renovation
  Pharmaceutical biology · 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）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。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