Understanding Inborn Errors of Metabolism through Metabolomics

Driesen, Karen; Witters, Peter

doi:10.3390/metabo12050398

Cited by 7 publications

(3 citation statements)

References 68 publications

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“…In addressing IEiMs, alternative treatments focus on augmenting the production of the necessary product, either by facilitating the conversion of the substrate to the desired product or by directly supplying the product ( Figure 1 f) [ 18 ].…”

Section: From Catalysts To Cures: Conventional Metabolic Therapiesmentioning

confidence: 99%

3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations

Carou-Senra,

Rodríguez-Pombo,

Monteagudo-Vilavedra

et al. 2023

Nutrients

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The incidence of Inborn Error of Intermediary Metabolism (IEiM) diseases may be low, yet collectively, they impact approximately 6–10% of the global population, primarily affecting children. Precise treatment doses and strict adherence to prescribed diet and pharmacological treatment regimens are imperative to avert metabolic disturbances in patients. However, the existing dietary and pharmacological products suffer from poor palatability, posing challenges to patient adherence. Furthermore, frequent dose adjustments contingent on age and drug blood levels further complicate treatment. Semi-solid extrusion (SSE) 3D printing technology is currently under assessment as a pioneering method for crafting customized chewable dosage forms, surmounting the primary limitations prevalent in present therapies. This method offers a spectrum of advantages, including the flexibility to tailor patient-specific doses, excipients, and organoleptic properties. These elements are pivotal in ensuring the treatment’s efficacy, safety, and adherence. This comprehensive review presents the current landscape of available dietary products, diagnostic methods, therapeutic monitoring, and the latest advancements in SSE technology. It highlights the rationale underpinning their adoption while addressing regulatory aspects imperative for their seamless integration into clinical practice.

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Section: From Catalysts To Cures: Conventional Metabolic Therapiesmentioning

confidence: 99%

3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations

Carou-Senra,

Rodríguez-Pombo,

Monteagudo-Vilavedra

et al. 2023

Nutrients

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“…Metabolic related diseases comprise a significant portion of rare diseases, representing the majority (7). These diseases encompass inborn metabolic abnormalities as well as other rare metabolic conditions with low incidence in the general population (8). Inborn errors of metabolism (IEMs) are a subset of rare metabolic diseases that result from defects in enzymes, co-factors, or transport proteins due to mutations affecting crucial metabolic enzymes (8).…”

Section: Introductionmentioning

confidence: 99%

Single-cell metabolomics in rare disease: From technology to disease

Li,

Zhang,

Zhou

et al. 2024

IRDR

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rare diseases, single cell omics, inborn errors of metabolism, single-cell metabolomics With the development of clinical experience and technology, rare diseases (RDs) are gradually coming into the limelight. As they often lead to poor prognosis, it is urgent to promote the accuracy and rapidity of diagnosis and promote the development of therapeutic drugs. In recent years, with the rapid improvement of single-cell sequencing technology, the advantages of multi-omics combined application in diseases have been continuously explored. Single-cell metabolomics represents a powerful tool for advancing our understanding of rare diseases, particularly metabolic RDs, and transforming clinical practice. By unraveling the intricacies of cellular metabolism at a single-cell resolution, this innovative approach holds the potential to revolutionize diagnosis, treatment, and management strategies, ultimately improving outcomes for RDs patients. Continued research and technological advancements in single-cell metabolomics are essential for realizing its full potential in the field of RDs diagnosis and therapeutics. It is expected that single-cell metabolomics can be better applied to RDs research in the future, for the benefit of patients and society.

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“…The investigation of Inborn Errors of Metabolism has already benefitted from metabolomics as a tool to facilitate diagnosis by finding appropriate biomarkers in human samples [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Metabolomic Studies in Inborn Errors of Metabolism: Last Years and Future Perspectives

et al. 2023

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The inborn errors of metabolism (IEMs or Inherited Metabolic Disorders) are a heterogeneous group of diseases caused by a deficit of some specific metabolic pathways. IEMs may present with multiple overlapping symptoms, sometimes difficult delayed diagnosis and postponed therapies. Additionally, many IEMs are not covered in newborn screening and the diagnostic profiling in the metabolic laboratory is indispensable to reach a correct diagnosis. In recent years, Metabolomics helped to obtain a better understanding of pathogenesis and pathophysiology of IEMs, by validating diagnostic biomarkers, discovering new specific metabolic patterns and new IEMs itself. The expansion of Metabolomics in clinical biochemistry and laboratory medicine has brought these approaches in clinical practice as part of newborn screenings, as an exam for differential diagnosis between IEMs, and evaluation of metabolites in follow up as markers of severity or therapies efficacy. Lastly, several research groups are trying to profile metabolomics data in platforms to have a holistic vision of the metabolic, proteomic and genomic pathways of every single patient. In 2018 this team has made a review of literature to understand the value of Metabolomics in IEMs. Our review offers an update on use and perspectives of metabolomics in IEMs, with an overview of the studies available from 2018 to 2022.

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Understanding Inborn Errors of Metabolism through Metabolomics

Cited by 7 publications

References 68 publications

3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations

3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations

Single-cell metabolomics in rare disease: From technology to disease

Metabolomic Studies in Inborn Errors of Metabolism: Last Years and Future Perspectives

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