ArticleOrphanet journal of rare diseases2020
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- Expression, purification, and in vitro characterization of the carboxylesterase CEST-9.2 from Caenorhabditis elegans.Bioscience reports · 2026Article
- Integrating telemedicine into nutritional management of infants with inherited metabolic disorders: a pilot study.Frontiers in pediatrics · 2026Article
- Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders.Acta medica Philippina · 2026Article
- Is Beta Ketothiolase Deficiency an Uncommon Disease or an Unsuspected Diagnosis? The Role of Genetic Biochemistry Approaches in Metabolic Acidosis.Pediatric reports · 2025Article
- Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.Turkish archives of pediatrics · 2025Article
- 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 · 2025Article
- Ketone body metabolism and the NLRP3 inflammasome in Alzheimer's disease.Immunological reviews · 2025Review
- Classic ketogenic diet-induced ketoacidosis in the treatment of pyruvate dehydrogenase deficiency: a case report and literature review.BMC pediatrics · 2024Review
- Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature.Clinical diabetes and endocrinology · 2024Review
- Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.Journal of medical genetics · 2023Article
- Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.Journal of inherited metabolic disease · 2022Review
- Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders.Journal of autism and developmental disorders · 2021Article
- C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China.Orphanet journal of rare diseases · 2021Article
- Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.Orphanet journal of rare diseases · 2021Review
- Cardiac Complications of Propionic and Other Inherited Organic Acidemias.Frontiers in cardiovascular medicine · 2020Review
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD; deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2/ "beta-ketothiolase") is an autosomal recessive disorder of ketone body utilization and isoleucine degradation due to mutations in ACAT1.
methodsWe performed a systematic literature search for all available clinical descriptions of patients with MATD. Two hundred forty-four patients were identified and included in this analysis. Clinical course and biochemical data are presented and discussed.
resultsFor 89.6% of patients at least one acute metabolic decompensation was reported. Age at first symptoms ranged from 2 days to 8 years (median 12 months). More than 82% of patients presented in the first 2 years of life, while manifestation in the neonatal period was the exception (3.4%). 77.0% (157 of 204 patients) of patients showed normal psychomotor development without neurologic abnormalities.
conclusionThis comprehensive data analysis provides a systematic overview on all cases with MATD identified in the literature. It demonstrates that MATD is a rather benign disorder with often favourable outcome, when compared with many other organic acidurias.
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