{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T23:51:41Z","timestamp":1776556301987,"version":"3.51.2"},"reference-count":22,"publisher":"Walter de Gruyter GmbH","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,1]]},"abstract":"Abstract<\/jats:title>Background:<\/jats:title>Glycogen synthase deficiency, also known as glycogenosis (GSD) type 0 is an inborn error of glycogen metabolism caused by mutations in the<\/jats:p><\/jats:sec>Case presentation:<\/jats:title>Herein we report three new cases of liver glycogen synthase deficiency (GSD0). The first patient presented at the 4 years of age with recurrent hypoglycemic seizures. The second patient who is the brother of the first patient presented at 15 months with asymptomatic incidental hypoglycemia. Glucose monitoring in both patients revealed daily fluctuations from fasting hypoglycemia to postprandial hyperglycemia and lactic acidemia. A third patient was consulted for ketotic hypoglycemia and postprandial hyperglycemia at the 5 years of age.<\/jats:p><\/jats:sec>Conclusions:<\/jats:title>Genetic analyses of the siblings revealed homozygosity for mutation c.736C>T on the<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2016-0317","type":"journal-article","created":{"date-parts":[[2017,2,28]],"date-time":"2017-02-28T10:04:45Z","timestamp":1488276285000},"source":"Crossref","is-referenced-by-count":26,"title":["The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency"],"prefix":"10.1515","volume":"30","author":[{"given":"\u00c7i\u011fdem Seher","family":"Kasapkara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zehra","family":"Aycan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esma","family":"A\u00e7o\u011flu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saliha","family":"Senel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melek Melahat","family":"Oguz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serdar","family":"Ceylaner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref21","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1016\/j.cca.2010.03.024","article-title":"Low level of fasting plasma mannose in a child with glycogen storage disease type 0 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synthase gene in children with hypoglycemia due to glycogen storage disease type 0","volume":"102","year":"1998","journal-title":"J Clin Invest"},{"key":"ref91","first-page":"1339","article-title":"The variable clinical phenotype of liver glycogen synthase deficiency","volume":"20","year":"2007","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1542\/peds.108.2.495","article-title":"Case report: liver glycogen synthase deficiency \u2013 a cause of ketotic hypoglycemia","volume":"108","year":"2001","journal-title":"Pediatrics"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.ymgme.2005.10.006","article-title":"Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia","volume":"87","year":"2006","journal-title":"Mol Genet Metab"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1542\/peds.108.2.495","article-title":"Case 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