{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T12:29:51Z","timestamp":1767875391510,"version":"3.49.0"},"reference-count":17,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0216_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      To report an unusual case of Wolcott\u2013Rallison syndrome (WRS) due to a novel homozygous missense mutation c.1805G&gt;T (p.Gly602Val) in the Exon 11 of eukaryotic translation initiation factor 2 alpha kinase 3 (\n                      <jats:italic>EIF2AK3<\/jats:italic>\n                      )\u00a0gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0216_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A 2-month-old infant, born to a consanguineous marriage presented to PICU with the manifestation of severe diabetic ketoacidosis (severe hyperglycemia, pH\u00a06.984\u00a0+\u00a0ketones in urine). Genomic sequencing analyses detected a novel homozygous missense variation in the Exon 11 of the\n                      <jats:italic>EIF2AK3<\/jats:italic>\n                      gene that resulted in the amino acid substitution of valine for glycine at codon 602 (p.Gly602Val). A diagnosis of Wolcott\u2013Rallison syndrome was confirmed. He was treated with fluid therapy and regular insulin infusion. The purpose of this case report is to highlight the novel mutation in the Exon 11 of the\n                      <jats:italic>EIF2AK3<\/jats:italic>\n                      gene and to raise awareness for screening of pathogenic genetic variants in the\n                      <jats:italic>EIF2AK3<\/jats:italic>\n                      gene in all patients with neonatal diabetes mellitus.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0216_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>In the evaluation of infants with diabetic ketoacidosis, genomic DNA sequencing analyses should be performed in all cases of neonatal diabetes mellitus for early diagnosis of Wolcott\u2013Rallison syndrome.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0216","type":"journal-article","created":{"date-parts":[[2025,9,24]],"date-time":"2025-09-24T10:57:20Z","timestamp":1758711440000},"page":"102-105","source":"Crossref","is-referenced-by-count":0,"title":["Wolcott\u2013Rallison syndrome due to a novel homozygous missense variation (p.Gly602Val) in the exon 11 of\n                    <i>EIF2AK3<\/i>\n                    gene"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0473-8048","authenticated-orcid":false,"given":"Bablu Kumar","family":"Gaur","sequence":"first","affiliation":[{"name":"Department of Pediatrics , Teerthanker Mahaveer Medical College, and Research Center, TMU , Moradabad , U.P , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chirag","family":"Varshney","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Teerthanker Mahaveer Medical College, and Research Center, TMU , Moradabad , U.P , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aditi","family":"Rawat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Teerthanker Mahaveer Medical College, and Research Center, TMU , Moradabad , U.P , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shruti","family":"Jain","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Teerthanker Mahaveer Medical College, and Research Center, TMU , Moradabad , U.P , India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,9,25]]},"reference":[{"key":"2026010809595742165_j_jpem-2025-0216_ref_001","doi-asserted-by":"crossref","unstructured":"Julier, C, Nicolino, M. 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