{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,15]],"date-time":"2025-08-15T02:34:06Z","timestamp":1755225246312,"version":"3.43.0"},"reference-count":23,"publisher":"The Endocrine Society","issue":"9","license":[{"start":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T00:00:00Z","timestamp":1753833600000},"content-version":"vor","delay-in-days":13,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,7,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Spinal muscular atrophy (SMA) is a genetic motor neuron disease that leads to reduced muscle mass and muscle weakness. Recent studies demonstrated that metabolic complications could develop as emerging complications among patients with SMA and long-term follow-up. Sarcopenia together with aberrant glucose and fatty acid metabolism can predispose those with SMA to develop diabetes and diabetic ketoacidosis. Here, we present a patient with SMA type III who presented with ketosis-prone diabetes as an initial presentation of diabetes. Pancreatic autoantibodies (anti-GAD and anti-IA2) and a monogenic diabetes genes panel revealed negative results. A polygenic risk score for type 2 diabetes revealed a low genetic risk for type 2 diabetes. After resolution of diabetic ketoacidosis, insulin therapy was successfully discontinued within 1 month after discharge and the patient has been treated with metformin in combination with thiazolidinedione. The possibility of metabolic abnormalities in patients with SMA should be considered among patients who live well into adulthood. Sarcopenia together with alterations in fatty acid and ketone metabolism could lead to ketosis-prone diabetes as an initial presentation of diabetes among patients with SMA.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf163","type":"journal-article","created":{"date-parts":[[2025,6,28]],"date-time":"2025-06-28T07:53:36Z","timestamp":1751097216000},"source":"Crossref","is-referenced-by-count":0,"title":["Ketosis-prone Diabetes as a Presentation of New-onset Diabetes in a Patient With Spinal Muscular Atrophy Type III"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2317-4041","authenticated-orcid":false,"given":"Yotsapon","family":"Thewjitcharoen","sequence":"first","affiliation":[{"name":"THEPTARIN Diabetes, Thyroid and Endocrine Center, Vimut-Theptarin Hospital , Bangkok 10110 ,","place":["Thailand"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5032-8296","authenticated-orcid":false,"given":"Soontaree","family":"Nakasatien","sequence":"additional","affiliation":[{"name":"THEPTARIN Diabetes, Thyroid and Endocrine Center, Vimut-Theptarin Hospital , Bangkok 10110 ,","place":["Thailand"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7868-1385","authenticated-orcid":false,"given":"Kongkiat","family":"Kulkantrakorn","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Faculty of Medicine, Thammasat University , Pathumthani 10200 ,","place":["Thailand"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6441-9826","authenticated-orcid":false,"given":"Thep","family":"Himathongkam","sequence":"additional","affiliation":[{"name":"THEPTARIN Diabetes, Thyroid and Endocrine Center, Vimut-Theptarin Hospital , Bangkok 10110 ,","place":["Thailand"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2025,7,30]]},"reference":[{"issue":"9630","key":"2025081304272492800_luaf163-B1","doi-asserted-by":"crossref","first-page":"2120","DOI":"10.1016\/S0140-6736(08)60921-6","article-title":"Spinal muscular atrophy","volume":"371","author":"Lunn","year":"2008","journal-title":"Lancet"},{"issue":"1","key":"2025081304272492800_luaf163-B2","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1097\/00125817-200201000-00004","article-title":"Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2","volume":"4","author":"Mailman","year":"2002","journal-title":"Genet Med"},{"issue":"2","key":"2025081304272492800_luaf163-B3","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1007\/s13311-014-0314-x","article-title":"The genetics of spinal muscular atrophy: progress and challenges","volume":"12","author":"Farrar","year":"2015","journal-title":"Neurotherapeutics"},{"issue":"4","key":"2025081304272492800_luaf163-B4","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1016\/j.nmd.2020.02.011","article-title":"The endocrine manifestations of spinal muscular atrophy, a real-life observational study","volume":"30","author":"Brener","year":"2020","journal-title":"Neuromuscul Disord"},{"issue":"11","key":"2025081304272492800_luaf163-B5","doi-asserted-by":"crossref","first-page":"5913","DOI":"10.3390\/ijms22115913","article-title":"Metabolic dysfunction in spinal muscular atrophy","volume":"22","author":"Deguise","year":"2021","journal-title":"Int J Mol Sci"},{"issue":"3","key":"2025081304272492800_luaf163-B6","doi-asserted-by":"crossref","first-page":"419","DOI":"10.3233\/JND-160171","article-title":"Stress-induced ketoacidosis in spinal muscular atrophy: an under-recognized complication","volume":"3","author":"Mulroy","year":"2016","journal-title":"J Neuromuscul Dis"},{"issue":"2","key":"2025081304272492800_luaf163-B7","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1002\/ana.23582","article-title":"Glucose metabolism and pancreatic defects in spinal muscular atrophy","volume":"72","author":"Bowerman","year":"2012","journal-title":"Ann Neurol"},{"issue":"13","key":"2025081304272492800_luaf163-B8","doi-asserted-by":"crossref","first-page":"3432","DOI":"10.1093\/hmg\/ddu052","article-title":"Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology","volume":"23","author":"Bowerman","year":"2014","journal-title":"Hum Mol Genet"},{"issue":"8","key":"2025081304272492800_luaf163-B9","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1002\/acn3.50855","article-title":"Abnormal fatty acid metabolism is a core component of spinal muscular atrophy","volume":"6","author":"Deguise","year":"2019","journal-title":"Ann Clin Transl 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