遗传性果糖不耐受症

定义 英文原文（暂无中文）

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.

别名

遗传性果糖-1-磷酸醛缩酶缺乏症

基本事实

遗传方式

常染色体隐性

发病年龄

各年龄段

患病率

1-9 / 100 000（Europe）

相关基因 1

临床表型 24

近两年的全球研究 112L2

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
  Hereditary Fructose Intolerance Presenting with Hematochezia
  Indian journal of pediatrics · DOI · Europe PMC
• 2026-07
  Endogenous fructose production in patients and mice with aldolase B deficiency
  Molecular genetics and metabolism · DOI · Europe PMC
• 2026-07
  Delayed diagnosis of hereditary fructose intolerance presenting as chronic lean steatosis in an adolescent
  JPGN reports · DOI · Europe PMC
• 2026-06综述
  Ketohexokinase: A central mediator of fructose-associated pathogenesis and promising therapeutic target
  Pharmacological research · 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
  Abstract
  JPGN reports
• 2026-06开放获取
  Fructose malabsorption associated with functional abdominal bloating: Case-control study
  World journal of gastrointestinal pharmacology and therapeutics · DOI · Europe PMC
• 2026-05开放获取
  When Fruit Turns Harmful: Late Diagnosis of Hereditary Fructose Intolerance in a Pediatric Patient-A Case Report and Literature Review
  Case reports in medicine · DOI · Europe PMC
• 2026-05开放获取
  Fructose 1-phosphate inhibits mannose phosphate isomerase to suppress hepatocellular carcinogenesis
  Signal transduction and targeted therapy · DOI · Europe PMC
• 2026-04开放获取
  The Effect of Heat Stress on Broiler Meat Quality and the Mechanisms Underlying Muscle Acidification: An In Vivo and In Vitro Study
  Metabolites · DOI · Europe PMC
• 2026-04开放获取
  Neonatal Conjugated Hyperbilirubinemia: Clinical Profile, Etiology, and Predictors of Adverse Outcomes in a NICU of a Tertiary Care Center
  Cureus · DOI · Europe PMC
• 2026-04综述
  Fructose: metabolic signal and modern hazard
  Nature metabolism · 被引 1 · DOI · Europe PMC
• 2026-04开放获取
  Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular Variants
  International journal of molecular sciences · DOI · Europe PMC
• 2026-04开放获取
  Performance of Blood-Based Indirect Scores Compared to Transient Elastography in Children with Chronic Liver Disease
  Diagnostics (Basel, Switzerland) · DOI · Europe PMC
• 2026-03开放获取
  Evaluation of the resilience status of children with inherited metabolic disorders and the levels of their mothers' burnout and resilience
  BMC pediatrics · DOI · Europe PMC
• 2026-03开放获取
  Calcium supplementation for prevention of pre-eclampsia in high-risk women: study protocol for a randomised triple-blind placebo-controlled trial (CaPE)
  Trials · DOI · Europe PMC
• 2026-03
  Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose Intolerance
  Molecular syndromology · DOI · Europe PMC
• 2026-03开放获取
  Consistency and clarity of pharmacogenomic guidance in UK medicine patient information leaflets: A cross-sectional analysis
  British journal of clinical pharmacology · DOI · Europe PMC
• 2026-03综述开放获取
  A Comparative Analysis of the Efficacy, Safety and Mechanism of Action of Flebogamma DIF, Fostamatinib and Romiplostim in Immune Thrombocytopenia
  Life (Basel, Switzerland) · DOI · Europe PMC
• 2026-03综述
  Drugs for Migraine Prophylaxis
  Deutsches Arzteblatt international · DOI · Europe PMC

中国境外的在招试验 1L2

共 1 项。

• 尚未开始招募NCT07337707
  New Microbiota-endocrine Axis in Fructose Malabsorption-caused Visceral Hypersensitivity in Irritable Bowel Syndrome.
  不适用 · 干预性 · 2026/02University Hospital, Rouen
  法国

外部标识与链接