ArticleEmerging topics in life sciences2019
Substrate reduction therapy for inborn errors of metabolism.
Article in Emerging topics in life sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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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, 29 citations in OpenAlex.
- Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management.Orphanet journal of rare diseases · 2025Article
- A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases.Journal of pharmaceutical analysis · 2025Review
- Considering Metabolic Context in Enzyme Evolution and Design.Biochemistry · 2025Review
- Mesenchymal Stem Cell-Derived Extracellular Vesicles: Seeking into Cell-Free Therapies for Bone-Affected Lysosomal Storage Disorders.International journal of molecular sciences · 2025Review
- LysineFrontiers in molecular neuroscience · 2025Review
- Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2024Review
- Development of orphan drugs for rare diseases.Clinical and experimental pediatrics · 2024Article
- Parents' Perceptions Regarding Their Children's Medications and Expert-Assessed Drug-Related Problems in Pediatric Patients with Inborn Errors of Metabolism.Children (Basel, Switzerland) · 2023Article
- Translational potential of base-editing tools for gene therapy of monogenic diseases.Frontiers in bioengineering and biotechnology · 2022Review
- Novel Starting Points for Human Glycolate Oxidase Inhibitors, Revealed by Crystallography-Based Fragment Screening.Frontiers in chemistry · 2022Article
- Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia.ACS chemical biology · 2021Article
- A Single-Stranded DNA-Encoded Chemical Library Based on a Stereoisomeric Scaffold Enables Ligand Discovery by Modular Assembly of Building Blocks.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2020Article
- DDIEM: drug database for inborn errors of metabolism.Orphanet journal of rare diseases · 2020Article
- Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.Nature communications · 2020Article
- Sphingolipid Mediators of Myocardial Pathology.Journal of lipid and atherosclerosis · 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
Inborn errors of metabolism (IEM) represent a growing group of monogenic disorders each associated with inherited defects in a metabolic enzyme or regulatory protein, leading to biochemical abnormalities arising from a metabolic block. Despite the well-established genetic linkage, pathophysiology and clinical manifestations for many IEMs, there remains a lack of transformative therapy. The available treatment and management options for a few IEMs are often ineffective or expensive, incurring a significant burden to individual, family, and society. The lack of IEM therapies, in large part, relates to the conceptual challenge that IEMs are loss-of-function defects arising from the defective enzyme, rendering pharmacologic rescue difficult. An emerging approach that holds promise and is the subject of a flurry of pre-/clinical applications, is substrate reduction therapy (SRT). SRT addresses a common IEM phenotype associated with toxic accumulation of substrate from the defective enzyme, by inhibiting the formation of the substrate instead of directly repairing the defective enzyme. This minireview will summarize recent highlights towards the development of emerging SRT, with focussed attention towards repurposing of currently approved drugs, approaches to validate novel targets and screen for hit molecules, as well as emerging advances in gene silencing as a therapeutic modality.
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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.