{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T09:17:33Z","timestamp":1785403053745,"version":"3.56.0"},"reference-count":50,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T00:00:00Z","timestamp":1782518400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Scientific and Technological Research Council of T\u00fcrkiye (T\u00dcB\u0130TAK), BIDEB 2211\/A National PhD Scholarship Program"},{"id":[{"id":"https:\/\/ror.org\/04w9kkr77","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>Background\/Objectives: Hepatic glycogen storage diseases (GSDs) are rare inherited metabolic disorders requiring lifelong nutritional management and strict metabolic control, which may adversely affect the health-related quality of life (HRQoL). This study aimed to evaluate the HRQoL in children with hepatic GSD using both child and parent reports, compare findings with normative data, and explore associations with biochemical, anthropometric, and nutritional management-related parameters. Methods: The study included 23 children with hepatic GSD and their parents. HRQoL was assessed using the Pediatric Quality of Life Inventory (PedsQL) Generic Core Scale. Child and parent reports were compared with normative data for healthy and chronically ill children. Agreement between child and parent reports was evaluated with intraclass correlation coefficients, and exploratory associations between variables were assessed using partial Spearman correlation analyses. Results: Total and most subscale PedsQL scores reported by both children and parents were significantly lower than those of healthy peers and children with chronic diseases (p &lt; 0.05). Parents reported lower HRQoL scores than children, particularly in psychosocial, social, and school functioning domains, with low to moderate agreement between reports. Exploratory analyses suggested that body composition and nutritional treatment burden indicators were correlated with selected HRQoL domains. Conclusions: Children with hepatic GSD experience impaired HRQoL from both child and parent perspectives. Integrating HRQoL assessment into routine clinical and nutritional follow-up may help identify unmet psychosocial and dietary support needs and support more individualized nutritional management in children with hepatic GSD.<\/jats:p>","DOI":"10.3390\/nu18132099","type":"journal-article","created":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T02:16:44Z","timestamp":1782699404000},"page":"2099","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Health-Related Quality of Life in Pediatric Hepatic Glycogen Storage Disease: A Dual-Perspective Study"],"prefix":"10.3390","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8463-6660","authenticated-orcid":false,"given":"Oznur","family":"Aydin","sequence":"first","affiliation":[{"name":"Department of Nutrition and Dietetics, Faculty of Health Sciences, Hacettepe University, Ankara 06100, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0513-1750","authenticated-orcid":false,"given":"Selcuk","family":"Dagdelen","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, Hacettepe University, Ankara 06230, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9063-3893","authenticated-orcid":false,"given":"Hasan","family":"Ozen","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Department of Internal Medicine, Faculty of Medicine, Hacettepe University, Ankara 06230, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8282-6468","authenticated-orcid":false,"given":"Hulya","family":"Gokmen-Ozel","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Dietetics, Faculty of Health Sciences, Hacettepe University, Ankara 06100, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1038\/s41572-023-00456-z","article-title":"Glycogen storage diseases","volume":"9","author":"Hannah","year":"2023","journal-title":"Nat. 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