ReviewClinica chimica acta; international journal of clinical chemistry2021
Inborn errors of metabolism associated with 3-methylglutaconic aciduria.
Review in Clinica chimica acta; international journal of clinical chemistry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses 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.
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Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 24 citations in OpenAlex.
- Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.Physiological research · 2024Pooled it
- The causal relationship between serum metabolites and the risk of psoriasis: a Mendelian randomization and meta-analysis study.Frontiers in immunology · 2024Pooled it
- A newborn with glycogen storage disease type Ib presenting with hypoglycemia and evidence of mitochondrial dysfunction.Molecular genetics and metabolism reports · 2026Article
- Novel Clinical and Neurophysiological Insights in Neonatal-Onset 3-Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations.Molecular genetics & genomic medicine · 2026Article
- Glutamatergic Neurotransmission Disruption as a Pathomechanism of Brain Damage in Disorders of Amino Acid and Organic Acid Metabolism: Insights from Animal and Cellular Studies.Neurochemical research · 2026Review
- Small Molecules as Alternate Substrates for 3-Methylglutaconylation.JIMD reports · 2025Article
- Metabolic origin and significance of 3-methylglutaryl CoA.Clinica chimica acta; international journal of clinical chemistry · 2025Review
- Disruption of Mitochondrial Quality Control in Inherited Metabolic Disorders.Molecular neurobiology · 2025Review
- YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria.Journal of inherited metabolic disease · 2025Article
- Factors Affecting Non-Enzymatic Protein Acylation byMetabolites · 2024Article
- 3-Methylglutarylcarnitine: A biomarker of mitochondrial dysfunction.Clinica chimica acta; international journal of clinical chemistry · 2023Review
- Characterization ofMetabolites · 2023Article
- Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay.Molecular genetics & genomic medicine · 2022Article
- Diversion of Acetyl CoA to 3-Methylglutaconic Acid Caused by Discrete Inborn Errors of Metabolism.Metabolites · 2022Review
- Barth Syndrome Cardiomyopathy: An Update.Genes · 2022Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
A growing number of inborn errors of metabolism (IEM) associated with compromised mitochondrial energy metabolism manifest an unusual phenotypic feature: 3-methylglutaconic (3MGC) aciduria. Two major categories of 3MGC aciduria, primary and secondary, have been described. In primary 3MGC aciduria, IEMs in 3MGC CoA hydratase (AUH) or HMG CoA lyase block leucine catabolism, resulting in a buildup of pathway intermediates, including 3MGC CoA. Subsequent thioester hydrolysis yields 3MGC acid, which is excreted in urine. In secondary 3MGC aciduria, no deficiencies in leucine catabolism enzymes exist and 3MGC CoA is formed de novo from acetyl CoA. In the "acetyl CoA diversion pathway", when IEMs directly, or indirectly, interfere with TCA cycle activity, acetyl CoA accumulates in the matrix space. This leads to condensation of two acetyl CoA to form acetoacetyl CoA, followed by another condensation between acetyl CoA and acetoacetyl CoA to form 3-hydroxy, 3-methylglutaryl (HMG) CoA. Once formed, HMG CoA serves as a substrate for AUH, producing trans-3MGC CoA. Non enzymatic isomerization of trans-3MGC CoA to cis-3MGC CoA precedes intramolecular cyclization to cis-3MGC anhydride plus CoA. Subsequent hydrolysis of cis-3MGC anhydride gives rise to cis-3MGC acid, which is excreted in urine. In reviewing 20 discrete IEMs that manifest secondary 3MGC aciduria, evidence supporting the acetyl CoA diversion pathway was obtained. This biochemical pathway serves as an "overflow valve" in muscle / brain tissue to redirect acetyl CoA to 3MGC CoA when entry to the TCA cycle is impeded.
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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.