{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:24:17Z","timestamp":1760145857950,"version":"build-2065373602"},"reference-count":19,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T00:00:00Z","timestamp":1725926400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Introduction: Deoxyguanosine Kinase (DGUOK) deficiency is a very rare disorder characterized by liver dysfunction, neurological manifestations, and metabolic disorders secondary to severely reduced mitochondrial DNA content. These patients develop early-onset liver failure, and their liver transplantation (LT) indication remains debatable due to the possibility of neurological involvement. Case Report: We present the case of a 6-month-old female diagnosed with DGUOK deficiency who developed liver failure. At 9 months, she underwent a living-related LT with an initial favorable evolution under immunosuppression therapy with tacrolimus. Four months after LT, she presented two prolonged bacterial and Rotavirus enteritis episodes. She developed classical post-transplant complications (severe renal tubular acidosis type IV, secondary to the high tacrolimus level, and post-transplant lymphoproliferative disease) during these episodes. Her condition deteriorated progressively, with reversible hypotonia and significant weight loss. However, the neurological evaluation did not reveal any signs suggestive of the progression of the underlying disease. A few months later, her clinical features and laboratory parameters improved considerably. Conclusions: This case highlights the unpredictable evolution of children with LT for liver failure due to DGUOK deficiency.<\/jats:p>","DOI":"10.3390\/jcm13185356","type":"journal-article","created":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T09:10:57Z","timestamp":1725959457000},"page":"5356","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Favorable Outcome after Liver Transplantation in an Infant with Liver Failure Due to Deoxyguanosine Kinase Deficiency"],"prefix":"10.3390","volume":"13","author":[{"given":"Alina","family":"Grama","sequence":"first","affiliation":[{"name":"2nd Pediatric Discipline, Mother and Child Department, \u201cIuliu Ha\u0163ieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Centre of Expertise in Pediatric Liver Rare Disorders, 2nd Pediatric Clinic, Emergency Clinical Hospital for Children, 400177 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2099-8379","authenticated-orcid":false,"given":"Gabriel","family":"Ben\u0163a","sequence":"additional","affiliation":[{"name":"2nd Pediatric Discipline, Mother and Child Department, \u201cIuliu Ha\u0163ieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2771-2302","authenticated-orcid":false,"given":"Alexandru","family":"Niculae","sequence":"additional","affiliation":[{"name":"2nd Pediatric Discipline, Mother and Child Department, \u201cIuliu Ha\u0163ieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Mititelu","sequence":"additional","affiliation":[{"name":"2nd Pediatric Discipline, Mother and Child Department, \u201cIuliu Ha\u0163ieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Simu","sequence":"additional","affiliation":[{"name":"2nd Pediatric Discipline, Mother and Child Department, \u201cIuliu Ha\u0163ieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Otilia","family":"Fufezan","sequence":"additional","affiliation":[{"name":"Imaging Department, Emergency Clinical Hospital for Children, 400370 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier","family":"Stephenne","sequence":"additional","affiliation":[{"name":"Cliniques Universitaires Saint Luc, Universit\u00e9 Catholique de Louvain, 1200 Bruxelles, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raymond","family":"Reding","sequence":"additional","affiliation":[{"name":"Cliniques Universitaires Saint Luc, Universit\u00e9 Catholique de Louvain, 1200 Bruxelles, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9208-9414","authenticated-orcid":false,"given":"Catherine","family":"de Magnee","sequence":"additional","affiliation":[{"name":"Cliniques Universitaires Saint Luc, Universit\u00e9 Catholique de Louvain, 1200 Bruxelles, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9913-322X","authenticated-orcid":false,"given":"Roberto","family":"Tambucci","sequence":"additional","affiliation":[{"name":"Cliniques Universitaires Saint Luc, Universit\u00e9 Catholique de Louvain, 1200 Bruxelles, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5597-4708","authenticated-orcid":false,"given":"Etienne","family":"Sokal","sequence":"additional","affiliation":[{"name":"Cliniques Universitaires Saint Luc, Universit\u00e9 Catholique de Louvain, 1200 Bruxelles, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4931-1219","authenticated-orcid":false,"given":"Tudor","family":"Pop","sequence":"additional","affiliation":[{"name":"2nd Pediatric Discipline, Mother and Child Department, \u201cIuliu Ha\u0163ieganu\u201d University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania"},{"name":"Centre of Expertise in Pediatric Liver Rare Disorders, 2nd Pediatric Clinic, Emergency Clinical Hospital for Children, 400177 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1097\/MPG.0000000000002149","article-title":"Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series","volume":"68","author":"Waich","year":"2019","journal-title":"J. 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