{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T15:35:59Z","timestamp":1771515359446,"version":"3.50.1"},"reference-count":13,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0459_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Glutathione synthetase deficiency (GSSD) is a rare, autosomal recessive disease that causes disruption in glutathione metabolism. According to clinical findings, it occurs in three forms: mild, moderate and severe. In severe forms, metabolic acidosis and hemolytic anemia are accompanied by neurological findings. Although there is no definitive treatment, early initiation of sodium bicarbonate, vitamin C, and vitamin E supplements is one of the most important factors affecting prognosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0459_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>Here we present a severe case of GSSD in a neonate with intrauterine periventricular cystic lesions, and postnatally developed severe hemolytic anemia, metabolic acidosis, and dilated cardiomyopathy. Exchange transfusion and peritoneal dialysis were performed because of refractory hyperbilirubinemia and acidosis despite sodium bicarbonate and vitamin supplementation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0459_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Early diagnosis and initiation of supportvive treatment with sodium bicarbonate, vitamin C, and vitamin E are esential for survival in severe GSSD. Dilated cardiomyopathy may represent a new complication of disease, highlighting the need for early cardiac monitoring.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0459","type":"journal-article","created":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T06:20:57Z","timestamp":1762582857000},"page":"188-192","source":"Crossref","is-referenced-by-count":0,"title":["Glutathione synthetase deficiency: severe hemolysis and metabolic acidosis with symptoms in the intrauterine period"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-7633-7886","authenticated-orcid":false,"given":"Aysegul","family":"Demirsu","sequence":"first","affiliation":[{"name":"Department of Pediatrics , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-4315-0103","authenticated-orcid":false,"given":"Ferid","family":"Aliyev","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neonatology , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elif","family":"Yucel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neonatology , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6800-8848","authenticated-orcid":false,"given":"K\u0131smet","family":"\u00c7\u0131k\u0131","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Metabolism , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y\u0131lmaz","family":"Y\u0131ld\u0131z","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Metabolism , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gizem","family":"\u00dcrel-Demir","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-7766","authenticated-orcid":false,"given":"Pelin Ozlem","family":"Simsek-Kiper","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali Dinc","family":"Bozat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Cardiology , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hakan","family":"Aykan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Cardiology , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ibrahim Halil","family":"\u00d6ncel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erdem","family":"Fadiloglu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Division of Perinatology , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sule","family":"Yigit","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neonatology , Hacettepe University , Ankara , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,11,10]]},"reference":[{"key":"2026021914572467733_j_jpem-2025-0459_ref_001","doi-asserted-by":"crossref","unstructured":"Ristoff, E, Mayatepek, E, Larsson, A. 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