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Typically, patients present early-onset liver failure with or without neurological involvement and a clinical course rapidly progressing to death.<\/jats:p>\n               <jats:p>This is an international multicentre study aiming to provide a retrospective natural history of deoxyguanosine kinase deficient patients. A systematic literature review from January 2001 to June 2023 was conducted. Physicians of research centres or clinicians all around the world caring for previously reported patients were contacted to provide followup information or additional clinical, biochemical, histological\/histochemical, and molecular genetics data for unreported cases with a confirmed molecular diagnosis of deoxyguanosine kinase deficiency.<\/jats:p>\n               <jats:p>A cohort of 202 genetically confirmed patients, 36 unreported, and 166 from a systematic literature review, were analyzed. Patients had a neonatal onset (\u2264 1 month) in 55.7% of cases, infantile (&amp;gt;1 month and \u2264 1 year) in 32.3%, pediatric (&amp;gt;1 year and \u226418 years) in 2.5% and adult (&amp;gt;18 years) in 9.5%. Kaplan-Meier analysis showed statistically different survival rates (P &amp;lt; 0.0001) among the four age groups with the highest mortality for neonatal onset. Based on the clinical phenotype, we defined four different clinical subtypes: hepatocerebral (58.8%), isolated hepatopathy (21.9%), hepatomyoencephalopathy (9.6%), and isolated myopathy (9.6%). Muscle involvement was predominant in adult-onset cases whereas liver dysfunction causes morbidity and mortality in early-onset patients with a median survival of less than 1 year. No genotype\u2013phenotype correlation was identified. Liver transplant significantly modified the survival rate in 26 treated patients when compared with untreated. Only six patients had additional mild neurological signs after liver transplant.<\/jats:p>\n               <jats:p>In conclusion, deoxyguanosine kinase deficiency is a disease spectrum with a prevalent liver and brain tissue specificity in neonatal and infantile-onset patients and muscle tissue specificity in adult-onset cases. Our study provides clinical, molecular genetics and biochemical data for early diagnosis, clinical trial planning and immediate intervention with liver transplant and\/or nucleoside supplementation.<\/jats:p>","DOI":"10.1093\/braincomms\/fcae160","type":"journal-article","created":{"date-parts":[[2024,5,3]],"date-time":"2024-05-03T11:55:59Z","timestamp":1714737359000},"source":"Crossref","is-referenced-by-count":13,"title":["Deoxyguanosine kinase deficiency: natural history and liver transplant outcome"],"prefix":"10.1093","volume":"6","author":[{"given":"Eleonora","family":"Manzoni","sequence":"first","affiliation":[{"name":"Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna , Bologna 40138 , Italy"},{"name":"IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell\u2019et\u00e0 Pediatrica di Bologna , Bologna 40124 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8130-5364","authenticated-orcid":false,"given":"Sara","family":"Carli","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna , Bologna 40138 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pauline","family":"Gaignard","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Bic\u00eatre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-H\u00f4pitaux de Paris , Paris 94275 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lea Dewi","family":"Schlieben","sequence":"additional","affiliation":[{"name":"School of Medicine, Institute of Human Genetics, Technical University of Munich , Munich, 80333 \u00a0 Germany"},{"name":"Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum M\u00fcnchen , Neuherberg 80333 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michio","family":"Hirano","sequence":"additional","affiliation":[{"name":"H. Houston Merritt Neuromuscular Research Center, Department of Neurology, Columbia University Irving Medical Center , New York, NY 10033 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Ronchi","sequence":"additional","affiliation":[{"name":"Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan , Milan 20122 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Gonzales","sequence":"additional","affiliation":[{"name":"Pediatric Hepatology and Pediatric Liver Transplantation Unit, Bic\u00eatre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-H\u00f4pitaux de Paris , Paris 94270 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaru","family":"Shimura","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Department of Metabolism, Chiba Children\u2019s Hospital , Chiba 260-0842 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3923-8636","authenticated-orcid":false,"given":"Kei","family":"Murayama","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Department of Metabolism, Chiba Children\u2019s Hospital , Chiba 260-0842 , Japan"},{"name":"Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University , Tokyo 113-8421 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Okazaki","sequence":"additional","affiliation":[{"name":"Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University , Tokyo 113-8421 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivo","family":"Bari\u0107","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine , Zagreb 10000 , Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danijela","family":"Petkovic Ramadza","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine , Zagreb 10000 , Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Karall","sequence":"additional","affiliation":[{"name":"Clinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck , 6020 Innsbruck , Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Mayr","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital, Paracelsus Medical University (PMU) , 5020 Salzburg , 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Gemelli IRCCS , Rome 00136 , Italy"},{"name":"Dipartimento Di Neuroscienze, Universit\u00e0 Cattolica del Sacro Cuore , Rome 00168 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9","family":"Santer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Medical Center Eppendorf , Hamburg 20246 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serenella","family":"Servidei","sequence":"additional","affiliation":[{"name":"Dipartimento di Neuroscienze, Organi di Senso e Torace -Fondazione Policlinico Universitario Agostino Gemelli IRCCS , Rome 00136 , Italy"},{"name":"Dipartimento Di Neuroscienze, Universit\u00e0 Cattolica del Sacro Cuore , Rome 00168 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Bris","sequence":"additional","affiliation":[{"name":"University Angers, Angers Hospital, INSERM, CNRS, MITOVASC, SFR ICAT , Angers F-49000 , 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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Menni","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Regional Clinical Center for Expanded Newborn Screening , Milan 20122 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olimpia","family":"Musumeci","sequence":"additional","affiliation":[{"name":"Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina , Messina 98125 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Nesbitt","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Medical Sciences Division, Oxford University , Oxford OX3 9DU , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Procopio","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Meyer Children\u2019s Hospital IRCCS , Florence 50139 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2969-1904","authenticated-orcid":false,"given":"C\u00e9cile","family":"Rouzier","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des Maladies Mitochondriales, Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU de Nice, Universit\u00e9 C\u00f4te d\u2019Azur, CNRS, INSERM, IRCAN , Nice 06000 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Staufner","sequence":"additional","affiliation":[{"name":"Division of Neuropaediatrics and Paediatric Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg , Heidelberg 69120 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan-Willem","family":"Taanman","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galit","family":"Tal","sequence":"additional","affiliation":[{"name":"Metabolic Clinic, Ruth Rappaport Children's Hospital, Rambam Health Care Campus , Haifa 3109601 , Israel"},{"name":"The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology , Haifa 3109601 , Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Ticci","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Meyer Children\u2019s Hospital IRCCS , Florence 50139 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duccio Maria","family":"Cordelli","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna , Bologna 40138 , Italy"},{"name":"IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell\u2019et\u00e0 Pediatrica di Bologna , Bologna 40124 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerio","family":"Carelli","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences, University of Bologna , Bologna 40123 , Italy"},{"name":"IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica , Bologna 40124 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Procaccio","sequence":"additional","affiliation":[{"name":"University Angers, Angers Hospital, INSERM, CNRS, MITOVASC, SFR ICAT , Angers F-49000 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[{"name":"School of Medicine, Institute of Human Genetics, Technical University of Munich , Munich, 80333 \u00a0 Germany"},{"name":"Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum M\u00fcnchen , Neuherberg 80333 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4928-1037","authenticated-orcid":false,"given":"Caterina","family":"Garone","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna , Bologna 40138 , Italy"},{"name":"IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell\u2019et\u00e0 Pediatrica di Bologna , Bologna 40124 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,5,6]]},"reference":[{"issue":"3","key":"2024062807291442600_fcae160-B1","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1212\/WNL.0b013e31829bfe89","article-title":"Mitochondrial encephalomyopathies\u2013fifty years on: The Robert Wartenberg 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