ArticleJournal of inherited metabolic disease2010
Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.
Article in Journal of inherited metabolic disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- 3-Methylglutarylcarnitine: A biomarker of mitochondrial dysfunction.Clinica chimica acta; international journal of clinical chemistry · 2023Review
- HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients.Frontiers in genetics · 2022Article
- Primary Metabolite Responses to Oxidative Stress in Early-Senescing and Paraquat ResistantFrontiers in plant science · 2020Article
- More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones.International journal of molecular sciences · 2019Review
- Molecular harvesting with electroporation for tissue profiling.Scientific reports · 2019Article
- Environmental Enteric Dysfunction is Associated with Carnitine Deficiency and Altered Fatty Acid Oxidation.EBioMedicine · 2017Article
- 3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report.Experimental and therapeutic medicine · 2016Article
- Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.Journal of inherited metabolic disease · 2015Review
- Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.Journal of inherited metabolic disease · 2014Review
- A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency.Italian journal of pediatrics · 2013Article
- Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.Journal of lipid research · 2012Article
- CardioNet: a human metabolic network suited for the study of cardiomyocyte metabolism.BMC systems biology · 2012Article
- Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.Molecular biology reports · 2012Article
- Olivopontocerebellar degeneration associated with 3-hydroxy-3-methylglutaric aciduria in a domestic shorthair cat.JFMS open reportsArticle
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
3-Hydroxy-3-methylglutaric aciduria is a rare human autosomal recessive disorder caused by deficiency of 3-hydroxy-3-methylglutaryl CoA lyase (HL). This mitochondrial enzyme catalyzes the common final step of leucine degradation and ketogenesis. Acute symptoms include vomiting, seizures and lethargy, accompanied by metabolic acidosis and hypoketotic hypoglycaemia. Such organs as the liver, brain, pancreas, and heart can also be involved. However, the pathophysiology of this disease is only partially understood. We measured mRNA levels, protein expression and enzyme activity of human HMG-CoA lyase from liver, kidney, pancreas, testis, heart, skeletal muscle, and brain. Surprisingly, the pancreas is, after the liver, the tissue with most HL activity. However, in heart and adult brain, HL activity was not detected in the mitochondrial fraction. These findings contribute to our understanding of the enzyme function and the consequences of its deficiency and suggest the need for assessment of pancreatic damage in these patients.
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