{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T10:02:42Z","timestamp":1785578562698,"version":"3.56.0"},"reference-count":16,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T00:00:00Z","timestamp":1767657600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:p>\n                    Nonketotic hyperglycinemia (NKH) is a rare genetic disorder with a global incidence of 0.4 to 1.3 per 100\u2005000 live births with regional variation. We sought to estimate the regional birth incidence and describe the clinical and genetic features of NKH in central and Appalachian Kentucky. Fifteen patients met standard diagnostic criteria for NKH; 13 were born in Kentucky, yielding an estimated birth incidence of 2.53 per 100\u2005000 live births (13\/513\u2005419; 95% CI 1.35-4.33). Of those with available genetic data (n\u2009=\u20099), 8 carried\n                    <jats:italic toggle=\"yes\">GLDC<\/jats:italic>\n                    variants, with 6 having the c.1166C&gt;T (p.A389V) variant. We found a higher incidence of NKH in central and Appalachian Kentucky compared to global estimates, with local enrichment of the p.A389V variant. These findings highlight the need for clinician awareness and further research to inform regional screening and management.\n                  <\/jats:p>","DOI":"10.1177\/08830738251409555","type":"journal-article","created":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T18:42:06Z","timestamp":1767724926000},"page":"1163-1169","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Nonketotic Hyperglycinemia in Central and Appalachian Kentucky"],"prefix":"10.1177","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-0400-6995","authenticated-orcid":false,"given":"Shane","family":"Reeves","sequence":"first","affiliation":[{"name":"University of Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Austin","family":"Wahle","sequence":"additional","affiliation":[{"name":"University of Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7747-128X","authenticated-orcid":false,"given":"Larry B","family":"Goldstein","sequence":"additional","affiliation":[{"name":"University of Kentucky"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7581-7742","authenticated-orcid":false,"given":"David Neil","family":"Toupin","sequence":"additional","affiliation":[{"name":"University of Kentucky"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,1,6]]},"reference":[{"key":"e_1_3_3_2_2","volume-title":"GeneReviews\u00ae [Internet]","author":"Van Hove JLK","unstructured":"Van Hove JLK, Coughlin CR,II, Swanson M, et al. Nonketotic hyperglycinemia. 2002 Nov 14 [Updated 2019 May 23; Accessed 9\/10\/2025]. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews\u00ae [Internet]. University of Washington, Seattle; 1993-2025. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1357\/"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.2183\/pjab.81.411"},{"key":"e_1_3_3_4_2","volume-title":"GeneReviews\u00ae [Internet]","author":"Quinonez SC","unstructured":"Quinonez SC, Thoene JG. Dihydrolipoamide dehydrogenase deficiency. 2014 Jul 17 [Updated 2021 Sep 30; Accessed 9\/10\/2025]. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews\u00ae [Internet]. University of Washington, Seattle; 1993-2025. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK220444\/"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24485"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.33552\/GJPNC.2024.05.000605"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.74"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000144270.83080.29"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115831"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1097-0223(199908)19:8<717::aid-pd625>3.0.co;2-l"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1007871"},{"key":"e_1_3_3_12_2","unstructured":"SAS Institute Inc. SAS\/STAT\u00ae 9.4 User\u2019s Guide. SAS Institute Inc; 2023."},{"key":"e_1_3_3_13_2","unstructured":"QGIS Development Team. QGIS Geographic Information System. Open Source Geospatial Foundation Project; 2025. http:\/\/qgis.osgeo.org"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1113"},{"key":"e_1_3_3_15_2","unstructured":"Franklin by Genoox. Genoox; 2025. Accessed September 10 2025. https:\/\/franklin.genoox.com."},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20293"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1964.00280100086014"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251409555","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738251409555","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251409555","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T09:55:27Z","timestamp":1785578127000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738251409555"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,6]]},"references-count":16,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1177\/08830738251409555"],"URL":"https:\/\/doi.org\/10.1177\/08830738251409555","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,6]]}}}