ReviewJournal of inherited metabolic disease2012
Inborn errors of ketogenesis and ketone body utilization.
Review in Journal of inherited metabolic disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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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
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Cyclic Vomiting Syndrome in Children.Frontiers in neurology · 2020Pooled it
- Beta-ketothiolase deficiency with neurological impairment: a case report.Annals of medicine and surgery (2012) · 2025Article
- 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants.Journal of pediatric endocrinology & metabolism : JPEM · 2025Article
- [Succinyl CoA:3 oxoacid CoA transferase deficiency: A case report].Revista medica del Instituto Mexicano del Seguro Social · 2023Article
- Genome-wide assessment reveals a significant association between ACSS3 and physical activity.Genes, brain, and behavior · 2023Article
- Hmgcs2-mediated ketogenesis modulates high-fat diet-induced hepatosteatosis.Molecular metabolism · 2022Article
- Amino acid metabolism genes associated with immunotherapy responses and clinical prognosis of colorectal cancer.Frontiers in molecular biosciences · 2022Article
- Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center.Journal of pediatric genetics · 2021Article
- Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency:Experimental and therapeutic medicine · 2020Article
- Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient.Molecular genetics & genomic medicine · 2020Article
- Article
- The neuroimaging findings of monocarboxylate transporter 1 deficiency.Neuroradiology · 2020Article
- A Japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia.JIMD reports · 2019Article
- A SLC16A1 Mutation in an Infant With Ketoacidosis and Neuroimaging Assessment: Expanding the Clinical Spectrum of MCT1 Deficiency.Frontiers in pediatrics · 2019Article
- Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China.Frontiers in genetics · 2019Article
- Approach to the interpretation of unexpected laboratory results arising in the care of patients with inborn errors of metabolism (IEM).Reviews in endocrine & metabolic disorders · 2018Review
- Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis.Indian journal of pediatrics · 2017Article
- Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis.JIMD reports · 2016Article
- A Cause of Permanent Ketosis: GLUT-1 Deficiency.JIMD reports · 2015Article
- Ketone body metabolism and its defects.Journal of inherited metabolic disease · 2014Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ketone bodies acetoacetate and 3-hydroxy-n-butyric acid are metabolites derived from fatty acids and ketogenic amino acids such as leucine. They are mainly produced in the liver via reactions catalyzed by the ketogenic enzymes mitochondrial 3-hydroxy-3-methylglutary-coenzyme A synthase and 3-hydroxy-3-methylglutary-coenzyme A lyase. After prolonged starvation, ketone bodies can provide up to two-thirds of the brain's energy requirements. The rate-limiting enzyme of ketone body utilization (ketolysis) is succinyl-coenzyme A:3-oxoacid coenzyme A transferase. The subsequent step of ketolysis is catalyzed by 2-methylactoacetyl-coenzyme A thiolase, which is also involved in isoleucine catabolism. Inborn errors of metabolism affecting those four enzymes are presented and discussed in the context of differential diagnoses. While disorders of ketogenesis can present with hypoketotic hypoglycemia, inborn errors of ketolysis are characterized by metabolic decompensations with ketoacidosis. If those diseases are considered early and appropriate treatment is initiated without delay, patients with inborn errors of ketone body metabolism often have a good clinical outcome.
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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.