Glucosa tetrasacárido como biomarcador diagnóstico de la enfermedad de Pompe: estudio en 35 pacientes

Lobato, Joaquín Bobillo; Parejo, Pilar Durán; Díez, P; Jiménez, Luís

doi:10.1016/j.medcli.2013.02.035

Cited by 7 publications

(2 citation statements)

References 7 publications

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“…In this case, it is more efficient to use a biomarker resulting from glycogen digestion and other ramified glucose polymers, the tetra-saccharide glucose (Glc4) [71]. …”

Section: Role Of Biomarkers In the Study Of Lsdsmentioning

confidence: 99%

Biomarkers in Lysosomal Storage Diseases

2016

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A biomarker is generally an analyte that indicates the presence and/or extent of a biological process, which is in itself usually directly linked to the clinical manifestations and outcome of a particular disease. The biomarkers in the field of lysosomal storage diseases (LSDs) have particular relevance where spectacular therapeutic initiatives have been achieved, most notably with the introduction of enzyme replacement therapy (ERT). There are two main types of biomarkers. The first group is comprised of those molecules whose accumulation is directly enhanced as a result of defective lysosomal function. These molecules represent the storage of the principal macro-molecular substrate(s) of a specific enzyme or protein, whose function is deficient in the given disease. In the second group of biomarkers, the relationship between the lysosomal defect and the biomarker is indirect. In this group, the biomarker reflects the effects of the primary lysosomal defect on cell, tissue, or organ functions. There is no “gold standard” among biomarkers used to diagnosis and/or monitor LSDs, but there are a number that exist that can be used to reasonably assess and monitor the state of certain organs or functions. A number of biomarkers have been proposed for the analysis of the most important LSDs. In this review, we will summarize the most promising biomarkers in major LSDs and discuss why these are the most promising candidates for screening systems.

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“…In this case, it is more efficient to use a biomarker resulting from glycogen digestion and other ramified glucose polymers, the tetra-saccharide glucose (Glc4) [71]. …”

Section: Role Of Biomarkers In the Study Of Lsdsmentioning

confidence: 99%

Biomarkers in Lysosomal Storage Diseases

2016

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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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The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside

Gross‐Valle,

Jacobs,

Dijck‐Brouwer

et al. 2024

J of Inher Metab Disea

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The urinary metabolite tetraglucoside (Glc4) is a potential biomarker for hepatic glycogen storage diseases (GSDs). Glc4 is believed to reflect body glycogen content and/or turnover. However, dietary polysaccharide intake may influence Glc4 excretion, potentially limiting the utility of Glc4 as a monitoring biomarker in hepatic GSDs. We aimed to investigate the association of dietary polysaccharide intake with Glc4 excretion. Urinary Glc4 excretion (mmol/mmol creatinine and mmol/24 h) was analyzed using a validated LC–MS/MS method. Data was analyzed from 65 kidney transplant recipients and 58 healthy kidney donors in the TransplantLines cohort study. Spearman's correlation and multivariable linear regression analyses were performed. In the multivariable analysis, dry lean body mass (DLBM), dietary polysaccharide intake, transplantation status, age, sex, and glycated hemoglobin (HbA1c) served as independent variables. Daily variation was examined in 21 healthy individuals of urinary Glc4 excretion in 2‐h collections over a 24‐h period. Mixed generalized additive models were built to study the association of prior polysaccharide intake with Glc4 excretion. No (univariate) associations were found between polysaccharide intake and Glc4 excretion. However, a significant interaction between DLBM and polysaccharide on 24 h Glc4 excretion was observed in the multivariate analysis. Glc4 excretion throughout the day exhibited no relationship to prior polysaccharide intake. Our findings suggest an indirect effect of polysaccharide intake on Glc4 excretion, potentially due to changes in muscle glycogen content and/or turnover. We have found no evidence that dietary polysaccharides under normal intakes increase urinary Glc4 directly.

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Glucosa tetrasacárido como biomarcador diagnóstico de la enfermedad de Pompe: estudio en 35 pacientes

Cited by 7 publications

References 7 publications

Biomarkers in Lysosomal Storage Diseases

Biomarkers in Lysosomal Storage Diseases

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

The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside

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