{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:42:09Z","timestamp":1753879329294,"version":"3.41.2"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,27]],"date-time":"2023-12-27T00:00:00Z","timestamp":1703635200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Transplantation"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Deoxyguanosine kinase (<jats:italic>DGUOK<\/jats:italic>) deficiency is a rare mitochondrial disorder characterized by early onset liver failure and varying degrees of neurologic dysfunction. Patients typically present during infancy with progressive hepatic dysfunction leading to liver failure, which can precede neurologic deterioration. Outcomes posttransplantation are historically worse than average and the role of liver transplantation remains controversial. These factors, in combination with the increasing number of patients being diagnosed via molecular genetic testing, may impede waitlist access.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report our single\u2010center experience with three patients with <jats:italic>DGUOK<\/jats:italic> deficiency, all of whom were considered for transplant. We review the current literature regarding management and discuss the role of liver transplantation in <jats:italic>DGUOK<\/jats:italic> deficiency\u2010associated liver failure.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two patients presented with hypoglycemia, conjugated hyperbilirubinemia, and lactic acidosis within the first week of life, were diagnosed with <jats:italic>DGUOK<\/jats:italic> deficiency prior to 2\u2009months of age and had severe neurologic involvement. The third patient presented in later infancy was diagnosed with <jats:italic>DGUOK<\/jats:italic> deficiency at 18\u2009months of age and had minimal neurologic involvement. All three patients were considered for transplant, though only two patients were listed. All three died from complications of end\u2010stage liver failure prior to liver transplantation between the ages of 5\u201320\u2009months.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Selection for liver transplantation in <jats:italic>DGUOK<\/jats:italic> deficiency is complex, requiring a multidisciplinary team approach. Recent data suggest that liver transplantation can be successful in select patients with absent or mild neurologic manifestations. National databases reporting long\u2010term outcomes posttransplantation are needed.<\/jats:p><\/jats:sec>","DOI":"10.1111\/petr.14670","type":"journal-article","created":{"date-parts":[[2023,12,27]],"date-time":"2023-12-27T10:19:53Z","timestamp":1703672393000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Considerations for liver transplantation in deoxyguanosine kinase deficiency: A case series and review of the literature"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5653-2220","authenticated-orcid":false,"given":"Jennifer T.","family":"Duong","sequence":"first","affiliation":[{"name":"Department of Pediatrics Division of Pediatric Gastroenterology, Hepatology, and Nutrition University of California San Francisco Benioff Children's Hospital  Oakland California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9858-9719","authenticated-orcid":false,"given":"M. Cristina","family":"Pacheco","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine &amp; Pathology Seattle Children's Hospital and University of Washington  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4359-7102","authenticated-orcid":false,"given":"Evelyn","family":"Hsu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Pediatric Gastroenterology, Hepatology, and Nutrition Seattle Children's Hospital and University of Washington  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5122-0706","authenticated-orcid":false,"given":"Niviann","family":"Blondet","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Pediatric Gastroenterology, Hepatology, and Nutrition Seattle Children's Hospital and University of Washington  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,27]]},"reference":[{"volume-title":"GeneReviews\u00ae","year":"1993","author":"El\u2010Hattab AW","key":"e_1_2_7_2_1"},{"doi-asserted-by":"publisher","key":"e_1_2_7_3_1","DOI":"10.1001\/archneur.63.8.1129"},{"doi-asserted-by":"publisher","key":"e_1_2_7_4_1","DOI":"10.1016\/j.jhep.2005.03.023"},{"doi-asserted-by":"publisher","key":"e_1_2_7_5_1","DOI":"10.1002\/lt.21556"},{"doi-asserted-by":"publisher","key":"e_1_2_7_6_1","DOI":"10.1002\/lt.23830"},{"doi-asserted-by":"publisher","key":"e_1_2_7_7_1","DOI":"10.1097\/MPG.0000000000002149"},{"doi-asserted-by":"publisher","key":"e_1_2_7_8_1","DOI":"10.1016\/j.clinre.2020.02.018"},{"doi-asserted-by":"publisher","key":"e_1_2_7_9_1","DOI":"10.1177\/0883073813517000"},{"doi-asserted-by":"publisher","key":"e_1_2_7_10_1","DOI":"10.1097\/MPG.0b013e31829ef67a"},{"doi-asserted-by":"publisher","key":"e_1_2_7_11_1","DOI":"10.1007\/s13353-010-0008-y"},{"doi-asserted-by":"publisher","key":"e_1_2_7_12_1","DOI":"10.1002\/humu.9519"},{"issue":"4","key":"e_1_2_7_13_1","article-title":"Treatment for mitochondrial disorders","volume":"2012","author":"Pfeffer G","year":"2012","journal-title":"Cochrane Database Syst Rev"},{"doi-asserted-by":"publisher","key":"e_1_2_7_14_1","DOI":"10.1186\/s13023-020-01441-5"},{"doi-asserted-by":"publisher","key":"e_1_2_7_15_1","DOI":"10.1111\/petr.13714"},{"doi-asserted-by":"publisher","key":"e_1_2_7_16_1","DOI":"10.1515\/jpem-2021-0108"},{"doi-asserted-by":"publisher","key":"e_1_2_7_17_1","DOI":"10.1002\/ana.10284"},{"doi-asserted-by":"publisher","key":"e_1_2_7_18_1","DOI":"10.1016\/j.ymgme.2005.09.006"},{"doi-asserted-by":"publisher","key":"e_1_2_7_19_1","DOI":"10.1136\/bcr.12.2011.5317"},{"doi-asserted-by":"publisher","key":"e_1_2_7_20_1","DOI":"10.1001\/archneur.62.5.745"},{"doi-asserted-by":"publisher","key":"e_1_2_7_21_1","DOI":"10.1002\/j.1536-4801.2004.tb12146.x"},{"doi-asserted-by":"publisher","key":"e_1_2_7_22_1","DOI":"10.1016\/j.ymgme.2016.04.009"},{"doi-asserted-by":"publisher","key":"e_1_2_7_23_1","DOI":"10.1007\/s10545-005-4484-x"},{"doi-asserted-by":"publisher","key":"e_1_2_7_24_1","DOI":"10.1007\/8904_2011_29"},{"doi-asserted-by":"publisher","key":"e_1_2_7_25_1","DOI":"10.1002\/ajmg.a.30748"},{"doi-asserted-by":"publisher","key":"e_1_2_7_26_1","DOI":"10.1093\/brain\/aws258"},{"doi-asserted-by":"publisher","key":"e_1_2_7_27_1","DOI":"10.1097\/AIA.0000000000000142"}],"container-title":["Pediatric Transplantation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/petr.14670","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T06:15:42Z","timestamp":1724307342000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/petr.14670"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,27]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1111\/petr.14670"],"URL":"https:\/\/doi.org\/10.1111\/petr.14670","archive":["Portico"],"relation":{},"ISSN":["1397-3142","1399-3046"],"issn-type":[{"type":"print","value":"1397-3142"},{"type":"electronic","value":"1399-3046"}],"subject":[],"published":{"date-parts":[[2023,12,27]]},"assertion":[{"value":"2023-04-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e14670"}}