Development of a kit for urine collection on filter paper as an alternative for Pompe disease screening and monitoring by LC-HRMS

Ribeiro, Hygor; Scalco, Fernanda B.; Garrett, Rafael; Marques, Flávia Ferreira de Carvalho

doi:10.1039/d3ay00587a

Cited by 1 publication

(1 citation statement)

References 32 publications

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“…Although not specific, urinary glucose tetrasaccharide (Glc4) seems to be the most important biomarker in measuring the progress of PD [ 85 , 86 , 87 , 88 ] and monitoring the therapeutic response to ERT [ 89 , 90 ]. For this reason, a number of studies have been performed to develop robust procedures based on mass spectrometry methods for the analysis of Glc4 in different biological samples [ 91 , 92 , 93 , 94 ] and to yield more evidence of its utility as a biomarker [ 91 , 95 , 96 , 97 ]. Other studies have emerged looking for new metabolic biomarkers to improve the clinical value of Glc4 for the diagnosis and prognosis of PD (reviewed in [ 85 , 98 ]).…”

Section: Introductionmentioning

confidence: 99%

Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes

Gómez-Cebrián,

Gras-Colomer,

Poveda Andrés

et al. 2023

Biology

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Lysosomal storage disorders (LSDs) constitute a large group of rare, multisystemic, inherited disorders of metabolism, characterized by defects in lysosomal enzymes, accessory proteins, membrane transporters or trafficking proteins. Pompe disease (PD) is produced by mutations in the acid alpha-glucosidase (GAA) lysosomal enzyme. This enzymatic deficiency leads to the aberrant accumulation of glycogen in the lysosome. The onset of symptoms, including a variety of neurological and multiple-organ pathologies, can range from birth to adulthood, and disease severity can vary between individuals. Although very significant advances related to the development of new treatments, and also to the improvement of newborn screening programs and tools for a more accurate diagnosis and follow-up of patients, have occurred over recent years, there exists an unmet need for further understanding the molecular mechanisms underlying the progression of the disease. Also, the reason why currently available treatments lose effectiveness over time in some patients is not completely understood. In this scenario, characterization of the metabolic phenotype is a valuable approach to gain insights into the global impact of lysosomal dysfunction, and its potential correlation with clinical progression and response to therapies. These approaches represent a discovery tool for investigating disease-induced modifications in the complete metabolic profile, including large numbers of metabolites that are simultaneously analyzed, enabling the identification of novel potential biomarkers associated with these conditions. This review aims to highlight the most relevant findings of recently published omics-based studies with a particular focus on describing the clinical potential of the specific metabolic phenotypes associated to different subgroups of PD patients.

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Section: Introductionmentioning

confidence: 99%

Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes

Gómez-Cebrián,

Gras-Colomer,

Poveda Andrés

et al. 2023

Biology

View full text Add to dashboard Cite

show abstract

Development of a kit for urine collection on filter paper as an alternative for Pompe disease screening and monitoring by LC-HRMS

Abstract: Pompe disease (PD) is an inborn error of metabolism caused by α-glucosidase acid enzyme deficiency. It significantly impacts patients' health and life quality and may lead to death in the...

Cited by 1 publication

References 32 publications

Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes

Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes

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