{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:09:50Z","timestamp":1791828590963,"version":"4.3.4"},"reference-count":8,"publisher":"The Endocrine Society","issue":"10","license":[{"start":{"date-parts":[[2025,8,19]],"date-time":"2025-08-19T00:00:00Z","timestamp":1755561600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,8,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Glycogen storage disease type Ia (GSD Ia) is a rare autosomal recessive metabolic disorder characterized by glucose-6-phosphatase deficiency, leading to severe fasting hypoglycemia, hypertriglyceridemia, hyperuricemia, hepatic adenomas, and osteoporosis. While intensive dietary and pharmacologic therapy remains the cornerstone of treatment, a subset of patients fails to achieve metabolic control and develops life-altering complications. We report the case of a 20-year-old male with genetically confirmed GSD Ia who exhibited persistent hypoglycemia, severe hyperlipidemia, hepatic adenomas, and osteoporosis despite optimal medical management. Due to the progression of hepatic and systemic complications, the patient underwent living donor liver transplantation using his father as the donor. Posttransplant follow-up demonstrated complete resolution of metabolic abnormalities, including hypoglycemia and dyslipidemia, normalization of liver function tests, and significant improvement in bone mineral density and quality of life. This case highlights the role of liver transplantation as a definitive metabolic treatment in selected patients with GSD Ia, offering not only biochemical correction but also prevention of neoplastic transformation and reversal of skeletal complications.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf182","type":"journal-article","created":{"date-parts":[[2025,8,19]],"date-time":"2025-08-19T10:15:30Z","timestamp":1755598530000},"source":"Crossref","is-referenced-by-count":1,"title":["Liver Transplantation as a Metabolic Treatment in Glycogen Storage Disease Type Ia"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-2398-3616","authenticated-orcid":false,"given":"Deniz Turkum","family":"Atikcan Simsek","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism, Baskent University , Cankaya, Ankara 06530 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2413-2046","authenticated-orcid":false,"given":"Elif Melek","family":"Avc\u0131 Dursun","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Dietetics, Baskent University , Ankara 06530 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-5328-3414","authenticated-orcid":false,"given":"Merve","family":"Senay Ozcalik","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Baskent University , Cankaya, Ankara 06530 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5305-6807","authenticated-orcid":false,"given":"Ozlem","family":"Turhan Iyidir","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Baskent University , Cankaya, Ankara 06530 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0998-8388","authenticated-orcid":false,"given":"Asli","family":"Nar","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Baskent University , Cankaya, Ankara 06530 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1816-3903","authenticated-orcid":false,"given":"Neslihan","family":"Bascil Tutuncu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Baskent University , Cankaya, Ankara 06530 ,","place":["Turkey"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2025,8,19]]},"reference":[{"issue":"3","key":"2025082908265909300_luaf182-B1","first-page":"432","article-title":"Liver transplantation for glycogen storage disease type I: a global perspective","volume":"43","author":"Weinstein","year":"2020","journal-title":"J Inherit Metab Dis"},{"issue":"9","key":"2025082908265909300_luaf182-B2","first-page":"1017","article-title":"Liver transplantation for glycogen storage disease type Ia: a cure or an adjunctive therapy?","volume":"15","author":"Reddy","year":"2009","journal-title":"Liver Transpl"},{"issue":"2","key":"2025082908265909300_luaf182-B3","first-page":"783","article-title":"Chromosomal localization of the human glucose-6-phosphatase gene and identification of a missense mutation in glycogen storage disease type Ia","volume":"95","author":"Kishnani","year":"1995","journal-title":"J Clin Invest"},{"issue":"2","key":"2025082908265909300_luaf182-B4","first-page":"392","article-title":"Liver transplantation in glycogen storage disease type I: indications and long-term outcomes","volume":"70","author":"Lee","year":"2019","journal-title":"J 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