β-酮硫解酶缺乏

定义 英文原文（暂无中文）

A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence.

别名

线粒体乙酰乙酰基-辅酶A硫解酶缺乏

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 / 1 000 000（Australia）

相关基因 1

临床表型 42

近两年的全球研究 38L2

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。

• 2026-09开放获取
  Dried Blood Spot-Based Monitoring of Dietary Treatment in Children, Adolescents, and Young Adults with Inherited Disorders of Amino Acid Metabolism: A Four-Year Pilot Study
  Nutrients · DOI · Europe PMC
• 2026-09
  Ketone metabolism defects in childhood: a spectrum of overlapping presentations and clinical features
  Journal of pediatric endocrinology & metabolism : JPEM · DOI · Europe PMC
• 2026-08开放获取
  Newborn Screening
  · Europe PMC
• 2026-08
  Longitudinal biochemical profiles in beta-ketothiolase deficiency: Phase-dependent diagnostic challenges and metabolic variability
  Molecular genetics and metabolism · DOI · Europe PMC
• 2026-08综述病例报告
  Beta-ketothiolase deficiency: two novel ACAT1 variants and a retrospective study of 76 cases in China
  Molecular genetics and metabolism · 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
• 2026-07病例报告开放获取
  Beta-ketothiolase deficiency with progressive basal ganglia and extra basal ganglia involvement: CT-MRI correlation in a pediatric metabolic encephalopathy: A case report
  Radiology case reports · DOI · Europe PMC
• 2026-07开放获取
  Integrating telemedicine into nutritional management of infants with inherited metabolic disorders: a pilot study
  Frontiers in pediatrics · DOI · Europe PMC
• 2026-07开放获取
  Community awareness of genetic disorders associated with consanguineous marriage and acceptance of preventive screening, a cross-sectional study from Saudi Arabia
  Frontiers in genetics · DOI · Europe PMC
• 2026-05开放获取
  Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders
  Acta medica Philippina · 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
• 2026-03开放获取
  Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation
  International journal of neonatal screening · 被引 1 · DOI · Europe PMC
• 2026-02综述开放获取
  Review Article: Overview of Clinical Genetics of Diabetes Mellitus
  Genes · 被引 3 · DOI · Europe PMC
• 2026-02病例报告开放获取
  Analysis of the clinical phenotype and genotype features of 5 cases of beta-ketothiolase deficiency
  BMC pediatrics · DOI · Europe PMC
• 2025-12开放获取
  The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007-2023
  Acta ophthalmologica · DOI · Europe PMC
• 2025-12开放获取
  Extended Lombardy's Neonatal Screening Dataset
  Scientific data · DOI · Europe PMC
• 2025-12开放获取
  Clinical and molecular characterization of 14 Egyptian children with fructose-1,6-bisphosphatase deficiency
  Italian journal of pediatrics · DOI · Europe PMC
• 2025-11综述开放获取
  Implementation Timeframes for the Addition of New Conditions to Newborn Bloodspot Screening Programmes: A Scoping Review
  International journal of neonatal screening · 被引 1 · DOI · Europe PMC
• 2025-11病例报告开放获取
  Is Beta Ketothiolase Deficiency an Uncommon Disease or an Unsuspected Diagnosis? The Role of Genetic Biochemistry Approaches in Metabolic Acidosis
  Pediatric reports · DOI · Europe PMC
• 2025-10综述开放获取
  Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions
  International journal of neonatal screening · DOI · Europe PMC

外部标识与链接