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 33L2

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病例报告
  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
• 2026-05
  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 · DOI · Europe PMC
• 2026-02综述开放获取
  Review Article: Overview of Clinical Genetics of Diabetes Mellitus
  Genes · 被引 1 · 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
  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 · 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
• 2025-09病例报告开放获取
  Beta-ketothiolase deficiency with neurological impairment: a case report
  Annals of medicine and surgery (2012) · DOI · Europe PMC
• 2025-09病例报告开放获取
  Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation
  International journal of neonatal screening · DOI · Europe PMC
• 2025-09系统综述开放获取
  Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands
  Journal of inherited metabolic disease · 被引 1 · DOI · Europe PMC
• 2025-07开放获取
  Molecular characterization, clinical phenotype, and neurological outcome of twelve Palestinian children with beta-ketothiolase deficiency: report of two novel variants in the ACAT1 gene
  BMC medical genomics · DOI · Europe PMC
• 2025-06预印本
  How to interpret stroke-like attacks in the context of mitochondrial disease
  · DOI
• 2025-06病例报告开放获取
  Delayed Diagnosis of Glutaric Aciduria Type 1: A Case Report
  Cureus · DOI · Europe PMC
• 2025-06开放获取
  Hypoxia-inducible factor-1 alpha and nuclear factor erythroid 2-related factor 2 as biomarkers of renal scarring in children with congenital anomalies of the kidney and urinary tract: a prospective case-control study
  BMC nephrology · 被引 2 · DOI · Europe PMC
• 2025-06
  C4OH-carnitine: an important marker of ketosis in patients with and without inborn errors of metabolism
  Molecular genetics and metabolism · 被引 1 · DOI · Europe PMC
• 2025-05开放获取
  Characterization of C5 Acylcarnitines and Related Dicarboxylic Acylcarnitines in Saudi Newborns: Screening, Confirmation, and Cutoff Variation
  International journal of neonatal screening · 被引 1 · DOI · Europe PMC

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