Evidence map›Paper›PMID 41721410›Full record

ArticleJournal of translational medicine2026

Proteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers.

Ruiqi Xiao, Candelas Gross-Valle, Albert Gerding, Adam M Thorne, Maaike H Oosterveer, Terry G J Derks, Vincent E de Meijer, M Rebecca Heiner-Fokkema, Barbara M Bakker, Justina C Wolters

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Article in Journal of translational medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Ruiqi XiaoLaboratory of Pediatrics, University of Groningen, University Medical Center Groningen; Antonius Deusinglaan 1, Groningen, The Netherlands.ORCID 0000-0003-4802-0644
Candelas Gross-ValleLaboratory of Pediatrics, University of Groningen, University Medical Center Groningen; Antonius Deusinglaan 1, Groningen, The Netherlands.ORCID 0009-0001-8167-5952
Albert GerdingLaboratory of Pediatrics, University of Groningen, University Medical Center Groningen; Antonius Deusinglaan 1, Groningen, The Netherlands.ORCID 0000-0002-6004-2398
Adam M ThorneUMCG Comprehensive Transplant Center, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.ORCID 0000-0001-5550-2364
Maaike H OosterveerLaboratory of Pediatrics, University of Groningen, University Medical Center Groningen; Antonius Deusinglaan 1, Groningen, The Netherlands.ORCID 0000-0003-4117-7833
Terry G J DerksBeatrix Children's Hospital, Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.ORCID 0000-0002-7259-1095
Vincent E de MeijerUMCG Comprehensive Transplant Center, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.ORCID 0000-0002-7900-5917
M Rebecca Heiner-FokkemaLaboratory of Metabolic Diseases, Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.ORCID 0000-0002-3477-0770
Barbara M BakkerLaboratory of Pediatrics, University of Groningen, University Medical Center Groningen; Antonius Deusinglaan 1, Groningen, The Netherlands.ORCID 0000-0001-6274-3633
Justina C Wolters *Laboratory of Pediatrics, University of Groningen, University Medical Center Groningen; Antonius Deusinglaan 1, Groningen, The Netherlands. j.c.wolters@umcg.nl.ORCID 0000-0003-0066-3720

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGlycogen Storage Disease (GSD) Types Ia and Ib are rare metabolic diseases caused by gene variants in G6PC1 and SLC37A4, respectively. Although life-threatening fasting hypoglycemia can be controlled by a strict diet, patients often suffer from multiple metabolic abnormalities and severe long-term complications. However, the underlying mechanisms remain incompletely understood, and there is a lack of effective monitoring biomarkers. Therefore, the aims of this study are to investigate the pathological mechanisms of the disease and disease complications in GSD I and identify potential protein biomarkers.

methodsComprehensive untargeted proteomics was performed on 18 GSD Ia and 8 GSD Ib sera samples from patients with 21 matched control sera, complemented by liver 3 GSD Ia samples and 1 GSD Ib sample from patient liver tissues, compared to 10 donor liver samples.

resultsWe identified 415 proteins in total. Significantly changed (FDR < 0.05) were observed in 158 (38%) proteins for GSD Ia vs Control, 116 (28%) for GSD Ib vs. Control, and 151 (36%) for GSD Ia vs. Ib. Pathway analysis revealed distinct alterations in serum/plasma, with 58, 32, and 29 significantly changed biological processes (FDR < 0.05) in these three comparisons, respectively. The coagulation pathway was the most significantly changed one in the GSD Ia patients. Immune response-associated proteins, especially immunoglobulins, were increased in GSD Ib specifically. Proteins related to liver injury, cholesterol, and amyloidosis were altered in two subtypes, though more pronounced in GSD Ia. Potential biomarkers with significant alterations both in the circulation and in the liver tissue were identified specifically for monitoring GSD I subtypes and prognosing liver deterioration, namely APOC1 and CD5L to distinguish between GSD Ia and Ib and ALDOB for the presence of hepatocellular carcinoma (HCC) in GSD Ia patients.

conclusionsThese findings provide new insights into the differences between the two GSD I subtypes and the pathogenesis of GSD I-related complications, as well as highlighting the potential of protein circulating biomarkers for monitoring complication progression in GSD I and assessing HCC risk in GSD Ia patients.

Indexed as

BiomarkersGlycogen Storage Disease Type ILiverProteomicsCase-Control StudiesFemaleHumansMaleBiomarkersCirculation biomarkersComplication mechanismsGlycogen storage disease type IHepatocellular carcinomaPrognosisProteomics

Identifiers

PMID41721410
PMCPMC12952100

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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.