ReviewJournal of inherited metabolic disease2020
Inborn errors of metabolite repair.
Review in Journal of inherited metabolic disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 34 citations in OpenAlex.
- Empagliflozin in GSD-Ib: Long-term safety and sustained recovery of neutrophil function including NET formation.Molecular genetics and metabolism reports · 2026Article
- The return of metabolism: biochemistry and physiology of glycolysis.Biological reviews of the Cambridge Philosophical Society · 2026Review
- Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5-Anhydroglucitol.Journal of inherited metabolic disease · 2025Review
- Failure to repair damaged NAD(P)H blocks de novo serine synthesis in human cells.Cellular & molecular biology letters · 2025Article
- High-throughput Saccharomyces cerevisiae cultivation method for credentialing-based untargeted metabolomics.Analytical and bioanalytical chemistry · 2023Article
- Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors.Diagnostics (Basel, Switzerland) · 2023Review
- A D-2-hydroxyglutarate dehydrogenase mutant reveals a critical role for ketone body metabolism in Caenorhabditis elegans development.PLoS biology · 2023Article
- The paradox of autoimmunity and autoinflammation in inherited neutrophil disorders - in search of common patterns.Frontiers in immunology · 2023Review
- Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots.Frontiers in molecular biosciences · 2023Article
- Glycolytic flux control by drugging phosphoglycolate phosphatase.Nature communications · 2022Article
- Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency.Journal of inherited metabolic disease · 2022Review
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- Article
- 2022 Overview of Metabolic Epilepsies.Genes · 2022Review
- Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience.Frontiers in endocrinology · 2022Review
- Approaches for completing metabolic networks through metabolite damage and repair discovery.Current opinion in systems biology · 2021Review
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- An international classification of inherited metabolic disorders (ICIMD).Journal of inherited metabolic disease · 2021Article
- Metabolic abnormalities in G6PC3-deficient human neutrophils result in severe functional defects.Blood advances · 2020Article
- Hypothesis: A Novel Neuroprotective Role for Glucose-6-phosphatase (G6PC3) in Brain-To Maintain Energy-Dependent Functions Including Cognitive Processes.Neurochemical research · 2020Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It is traditionally assumed that enzymes of intermediary metabolism are extremely specific and that this is sufficient to prevent the production of useless and/or toxic side-products. Recent work indicates that this statement is not entirely correct. In reality, enzymes are not strictly specific, they often display weak side activities on intracellular metabolites (substrate promiscuity) that resemble their physiological substrate or slowly catalyse abnormal reactions on their physiological substrate (catalytic promiscuity). They thereby produce non-classical metabolites that are not efficiently metabolised by conventional enzymes. In an increasing number of cases, metabolite repair enzymes are being discovered that serve to eliminate these non-classical metabolites and prevent their accumulation. Metabolite repair enzymes also eliminate non-classical metabolites that are formed through spontaneous (ie, not enzyme-catalysed) reactions. Importantly, genetic deficiencies in several metabolite repair enzymes lead to 'inborn errors of metabolite repair', such as L-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria, 'ubiquitous glucose-6-phosphatase' (G6PC3) deficiency, the neutropenia present in Glycogen Storage Disease type Ib or defects in the enzymes that repair the hydrated forms of NADH or NADPH. Metabolite repair defects may be difficult to identify as such, because the mutated enzymes are non-classical enzymes that act on non-classical metabolites, which in some cases accumulate only inside the cells, and at rather low, yet toxic, concentrations. It is therefore likely that many additional metabolite repair enzymes remain to be discovered and that many diseases of metabolite repair still await elucidation.
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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.