{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T17:23:37Z","timestamp":1761153817453},"reference-count":36,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>Glycogen storage disease (GSD) type IX and growth hormone (GH) deficiency cause ketotic hypoglycemia via different mechanisms and are not known to be associated. We describe a patient presenting with severe ketotic hypoglycemia found to have both GSD IX and isolated GH deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation:<\/jats:title><jats:p>A 3-year-and-11-month-old boy with a history of prematurity, autism, developmental delay, seizures, and feeding difficulty was admitted for poor weight gain and symptomatic hypoglycemia. He was nondysmorphic, with a height of 93.8 cm (2%, \u20131.97 SDS), and has no hepatomegaly. He developed symptomatic hypoglycemia, with a serum glucose level of 37 mg\/dL after 14 h of fasting challenge. Critical sample showed a GH of 0.24 ng\/mL. GH provocative stimulation testing was done with a peak GH of 2.8 ng\/mL. Brain magnetic resonance imaging showed a hypoplastic pituitary gland. Given the clinical symptoms, suspicion for mitochondrial disease was high. Dual Genome Panel by Massively Parallel Sequencing revealed a hemizygous variant c.721A&gt;G (p1241V) in the X-linked<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>Given the patient\u2019s developmental delays that were not explained by GH deficiency alone, further investigation showed two unrelated conditions resulting in deranged metabolic adaptation to fasting leading to severe hypoglycemia.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2016-0342","type":"journal-article","created":{"date-parts":[[2017,1,13]],"date-time":"2017-01-13T10:01:38Z","timestamp":1484301698000},"source":"Crossref","is-referenced-by-count":12,"title":["Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia"],"prefix":"10.1515","volume":"30","author":[{"given":"Juanita K.","family":"Hodax","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serife","family":"Uysal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose Bernardo","family":"Quintos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chanika","family":"Phornphutkul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref201","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.ymgme.2007.06.007","article-title":"Glycogen storage disease type IX: High variability in clinical phenotype","volume":"92","year":"2007","journal-title":"Mol Genet Metab"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"210","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","year":"2008","journal-title":"J Med Case Rep"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1023\/A:1021831621210","article-title":"Glycogen storage diseases","volume":"4","year":"2003","journal-title":"Rev Endocr Metab Disord"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1016\/S0022-3476(73)80544-X","article-title":"Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency","volume":"83","year":"1973","journal-title":"J Pediatr"},{"key":"ref241","first-page":"761","article-title":"Recurrent infantile hypoglycemia due to combined fructose-1,6-diphosphatase deficiency and growth hormone deficiency","volume":"26","year":"2013","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of mendelian disorders","volume":"369","year":"2013","journal-title":"N Engl J Med"},{"key":"ref261","first-page":"511","volume-title":"Contemporary endocrinology: pediatric endocrinology: a practical clinical guide","year":"2003"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1007\/BF00441862","article-title":"Difficult hGH treatment in a patient with type III glycogen storage disease","volume":"145","year":"1986","journal-title":"Eur J Pediatr"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"e1","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","year":"2014","journal-title":"Genet Med"},{"key":"ref01","first-page":"801","article-title":"Glycogen storage diseases. 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