{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T11:01:50Z","timestamp":1792839710034,"version":"4.5.0"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,10,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0108_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Deoxyguanosine kinase (DGUOK) deficiency is one of the leading causes of the mitochondrial DNA-depletion syndromes (MDDS) associated with hepatocerebral involvement. Herein, we present four cases of DGUOK deficiency to emphasize the clinical variability of disease and the challenges in the diagnosis of DGUOK deficiency.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0108_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Hepatomegaly, hyperlactatemia, elevated alpha fetoprotein (AFP), alanine, and transaminase levels\u00a0were detected in all patients, and cholestasis, coagulopathy, and hypotonia were common findings. All patients had a low birth weight, one patient underwent liver transplantation (LT). Clinical and laboratory findings of two patients and one patient suggested neonatal hemochromatosis and type 1 tyrosinemia, respectively. All patients were diagnosed with DGUOK deficiency by performing molecular genetic analysis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0108_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Mitochondrial DNA-depletion syndromes should be kept in mind in cases in which hypotonicity, lactic acidosis, and neonatal cholestasis are\u00a0observed. DGUOK deficiency may present in different clinics suggesting neonatal hemochromatosis or tyrosinemia type 1.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0108","type":"journal-article","created":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T22:09:34Z","timestamp":1624572574000},"page":"1341-1347","source":"Crossref","is-referenced-by-count":7,"title":["The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a\u00a0descriptive case series"],"prefix":"10.1515","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6243-4563","authenticated-orcid":false,"given":"Neslihan","family":"Do\u011fulu","sequence":"first","affiliation":[{"name":"Department of Pediatric Metabolism , Ankara University Faculty of Medicine , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ceyda","family":"Tuna K\u0131rsa\u00e7l\u0131o\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Hepatology and Nutrition , Ankara University Faculty of Medicine , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Engin","family":"K\u00f6se","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Ankara University Faculty of Medicine , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aysel","family":"\u00dcnl\u00fcsoy Aksu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Hepatology and Nutrition, Ankara City Hospital , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zarife","family":"Kulo\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Hepatology and Nutrition , Ankara University Faculty of Medicine , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aydan","family":"Kansu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Hepatology and Nutrition , Ankara University Faculty of Medicine , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma Tuba","family":"Emino\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Ankara University Faculty of Medicine , Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2021,6,28]]},"reference":[{"key":"2023040101125226089_j_jpem-2021-0108_ref_001","doi-asserted-by":"crossref","unstructured":"Spinazzola, A, Invernizzi, F, Carrara, F, Lamantea, E, Donati, A, Dirocco, M, et al.. 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