ArticleCase reports in medicine2009
A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency.
Article in Case reports in medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 25 citations in OpenAlex.
- 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency in an adolescent male: a case report and narrative review of Chinese patients.BMC pediatrics · 2026Review
- Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.Turkish archives of pediatrics · 2025Article
- An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies.Frontiers in cardiovascular medicine · 2025Review
- The tRNA methyltransferase Mettl1 governs ketogenesis through translational regulation and drives metabolic reprogramming in cardiomyocyte maturation.Nature cardiovascular research · 2024Article
- 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.Orphanet journal of rare diseases · 2020Article
- Cardiac Complications of Propionic and Other Inherited Organic Acidemias.Frontiers in cardiovascular medicine · 2020Review
- Induction of a Proinflammatory Response in Cortical Astrocytes by the Major Metabolites Accumulating in HMG-CoA Lyase Deficiency: the Role of ERK Signaling Pathway in Cytokine Release.Molecular neurobiology · 2016Article
- 3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report.Experimental and therapeutic medicine · 2016Article
- Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria.Molecular and cellular biochemistry · 2015Article
- Ketone body metabolism and its defects.Journal of inherited metabolic disease · 2014Review
- A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency.Italian journal of pediatrics · 2013Article
- Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.Journal of inherited metabolic disease · 2010Article
- BRANCHED CHAIN AMINO ACIDS AT THE EDGE BETWEEN MENDELIAN AND COMPLEX DISORDERS.Acta endocrinologica (Bucharest, Romania : 2005)Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
3-hydroxy-3-methylglutaryl-coenzyme A (HMG CoA) lyase deficiency is an inborn error of metabolism characterized by impairment of ketogenesis and leucine catabolism resulting in an organic acidopathy. In 1994, a case of dilated cardiomyopathy and fatal arrhythmia was reported in a 7-month-old infant. We report a case of dilated cardiomyopathy in association with HMG CoA lyase deficiency in a 23-year-old man with the acute presentation of heart failure. To our knowledge, this is the first case reported in an adult.
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Registered trials
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