{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T07:41:06Z","timestamp":1791013266427,"version":"4.1.0"},"reference-count":17,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,6,17]],"date-time":"2022-06-17T00:00:00Z","timestamp":1655424000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Glycogen storage disease type Ia is a rare metabolic disorder that leads to excessive glycogen and fat accumulation in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, puberty delay, and growth retardation. Here, we report on a patient with glycogen storage disease type Ia treated with growth hormone.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>A 10-year-old boy had growth retardation for 6 years, and was admitted to clarify the cause of his short stature. We found that his bone age was 5.5 years, significantly lower than his physical age, while his serum IGF-1 and IGFBP-3 were 23.30 and 1620.0 ng\/mL, respectively, both lower than normal. His medical history revealed that he had suffered from steatohepatitis, hyperlipidemia, and hypoglycemia since he was 11 months of age. Whole exome sequencing (WES) showed compound heterozygous mutations in exons 2 and 5 of the glucose-6-phosphatase (G6PC) gene on chromosome 17: c.G248A (p.R83H) and c.G648T (p.L216L). The patient was finally diagnosed with GSD Ia. After growth hormone (GH) treatment and corn starch therapy for 14 months, his height significantly increased (by 13 cm). The serum IGF-1 level increased to the normal range but his lipid levels and liver function did not significantly increase.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We describe a young patient with a compound heterozygous G6PC variant in a Chinese family; his height increased significantly after growth hormone and corn starch interventions. This case emphasizes that WES is essential for early diagnosis, and that growth hormone treatment may increase the height of patients with GSD Ia safely.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2022.921323","type":"journal-article","created":{"date-parts":[[2022,6,17]],"date-time":"2022-06-17T16:15:44Z","timestamp":1655482544000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone"],"prefix":"10.3389","volume":"10","author":[{"given":"Shimin","family":"Wu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shusen","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Fu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caiqi","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoping","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,6,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.128","article-title":"Diagnosis and management of glycogen storage disease type I: a practice guideline of the American college of medical genetics and genomics.","volume":"16","author":"Kishnani","year":"2014","journal-title":"Genet Med."},{"key":"B2","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1016\/j.tem.2009.02.003","article-title":"Emerging therapies for glycogen storage disease type I.","volume":"20","author":"Koeberl","year":"2009","journal-title":"Trends Endocrinol Metab."},{"key":"B3","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1038\/sj.ejhg.5200366","article-title":"The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.","volume":"7","author":"Veiga-da-Cunha","year":"1999","journal-title":"Eur J Hum Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1111\/pedi.12540","article-title":"Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control.","volume":"18","author":"Dambska","year":"2017","journal-title":"Pediatr Diabetes."},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1186\/1752-1947-2-210","article-title":"Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report.","volume":"2","author":"Dagdelen","year":"2008","journal-title":"J Med Case Rep."},{"key":"B6","doi-asserted-by":"publisher","first-page":"29","DOI":"10.23750\/abm.v91i1.9182","article-title":"Effect of growth hormone treatment on children with idiopathic short stature (ISS), idiopathic growth hormone deficiency (IGHD), small for gestational age (SGA) and Turner syndrome (TS) in a tertiary care center.","volume":"91","author":"Al Shaikh","year":"2020","journal-title":"Acta Biomed."},{"key":"B7","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1016\/j.ando.2019.02.001","article-title":"Efficacy and safety of recombinant growth hormone treatment in children with growth retardation related to long-term glucocorticosteroid therapy.","volume":"80","author":"Basmaison","year":"2019","journal-title":"Ann Endocrinol (Paris)."},{"key":"B8","first-page":"487","article-title":"Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18 years.","volume":"47","author":"Li","year":"2009","journal-title":"Zhonghua Er Ke Za Zhi."},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-02006-w","article-title":"Impact of glycogen storage disease type I on adult daily life: a survey.","volume":"16","author":"Garbade","year":"2021","journal-title":"Orphanet J Rare Dis."},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-1321-0","article-title":"Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.","volume":"15","author":"Kim","year":"2020","journal-title":"Orphanet J Rare Dis."},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1444","article-title":"Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.","volume":"8","author":"Liang","year":"2020","journal-title":"Mol Genet Genomic Med."},{"key":"B12","first-page":"581","article-title":"Analysis of gene mutations and clinical manifestations in 20 patients with glycogen storage disease type Ia.","volume":"28","author":"Liang","year":"2013","journal-title":"Chin J Appl Clin Pediatr."},{"key":"B13","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1111\/j.1399-0004.1998.tb02674.x","article-title":"Glucose-6-phosphatase gene (727G\u2013>T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a.","volume":"53","author":"Lam","year":"1998","journal-title":"Clin Genet."},{"key":"B14","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1016\/j.gene.2012.09.020","article-title":"A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia.","volume":"511","author":"Zhu","year":"2012","journal-title":"Gene."},{"key":"B15","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1530\/EJE-21-1186","article-title":"Safety of growth hormone replacement in survivors of cancer and intracranial and pituitary tumours: a consensus statement.","volume":"186","author":"Boguszewski","year":"2022","journal-title":"Eur J Endocrinol."},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-019-0816-9","article-title":"A patient with glycogen storage disease type Ia combined with chronic hepatitis B infection: a case report.","volume":"20","author":"Wang","year":"2019","journal-title":"BMC Med Genet."},{"key":"B17","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1016\/j.jpeds.2009.10.032","article-title":"The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b.","volume":"156","author":"Melis","year":"2010","journal-title":"J Pediatr."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.921323\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,17]],"date-time":"2022-06-17T16:15:51Z","timestamp":1655482551000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.921323\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,17]]},"references-count":17,"alternative-id":["10.3389\/fped.2022.921323"],"URL":"https:\/\/doi.org\/10.3389\/fped.2022.921323","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,17]]},"article-number":"921323"}}