ReviewJournal of inherited metabolic disease2014
Ketone body metabolism and its defects.
Review in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
113 citing papers in PubMed, 229 citations in OpenAlex.
- No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo-controlled cross-over study.Journal of inherited metabolic disease · 2022Trial
- Mangiferin supplementation improves serum lipid profiles in overweight patients with hyperlipidemia: a double-blind randomized controlled trial.Scientific reports · 2015Trial
- The significance of the ketolytic gene OXCT1 in metabolism, intracellular signaling and disease development.Cellular and molecular life sciences : CMLS · 2026Review
- Article
- Analysis of the clinical phenotype and genotype features of 5 cases of beta-ketothiolase deficiency.BMC pediatrics · 2026Article
- Pregnancy Complicated by 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency and Kaposiform Lymphangiomatosis.O&G open · 2026Article
- ¹H-NMR serum metabolomic profiling from clinical routine identifies signatures of progressive melanoma metastasis.Scientific reports · 2026Article
- BDH1-Dependent Ketone Body Metabolism Maintains Müller Cell Homeostasis and Retinal Function.bioRxiv : the preprint server for biology · 2025Article
- Sucrose supplementation mitigates heat stress-induced alterations in rumen metabolism and immunity in dairy cows.Scientific reports · 2025Article
- Ketone Catabolism Is Essential for Maintaining Normal Heart Function During Aging.Journal of the American Heart Association · 2025Article
- Beta-ketothiolase deficiency with neurological impairment: a case report.Annals of medicine and surgery (2012) · 2025Article
- Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.Turkish archives of pediatrics · 2025Article
- Ligand-Enzyme Interaction Modeling of Missense Variants Implicated in Mitochondrial HMG-CoA Synthase Deficiency.International journal of molecular sciences · 2025Article
- Article
- Ketogenic Metabolism in Neurodegenerative Diseases: Mechanisms of Action and Therapeutic Potential.Metabolites · 2025Review
- Analysis of HMGCS2 Expression and TG Lipidomics in the Perirenal Adipose Tissue of Obese Diabetic Nephropathy Mice.Journal of diabetes · 2025Article
- Validation of the Measurement of Beta-Hydroxybutyrate and Non-Esterified Fatty Acids in Bovine Saliva: A Pilot Report.Life (Basel, Switzerland) · 2025Article
- Idiopathic Pathological Ketotic Hypoglycemia: Finding the Needle in a Haystack.Hormone research in paediatrics · 2025Review
- Increased ketone levels as a key magnetic resonance spectroscopic findings during acute exacerbation inRadiology case reports · 2024Article
- Factors Affecting Non-Enzymatic Protein Acylation byMetabolites · 2024Article
53 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Acetoacetate (AcAc) and 3-hydroxybutyrate (3HB), the two main ketone bodies of humans, are important vectors of energy transport from the liver to extrahepatic tissues, especially during fasting, when glucose supply is low. Blood total ketone body (TKB) levels should be evaluated in the context of clinical history, such as fasting time and ketogenic stresses. Blood TKB should also be evaluated in parallel with blood glucose and free fatty acids (FFA). The FFA/TKB ratio is especially useful for evaluation of ketone body metabolism. Defects in ketogenesis include mitochondrial HMG-CoA synthase (mHS) deficiency and HMG-CoA lyase (HL) deficiency. mHS deficiency should be considered in non-ketotic hypoglycemia if a fatty acid beta-oxidation defect is suspected, but cannot be confirmed. Patients with HL deficiency can develop hypoglycemic crises and neurological symptoms even in adolescents and adults. Succinyl-CoA-3-oxoacid CoA transferase (SCOT) deficiency and beta-ketothiolase (T2) deficiency are two defects in ketolysis. Permanent ketosis is pathognomonic for SCOT deficiency. However, patients with "mild" SCOT mutations may have nonketotic periods. T2-deficient patients with "mild" mutations may have normal blood acylcarnitine profiles even in ketoacidotic crises. T2 deficient patients cannot be detected in a reliable manner by newborn screening using acylcarnitines. We review recent data on clinical presentation, metabolite profiles and the course of these diseases in adults, including in pregnancy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.