{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T16:38:08Z","timestamp":1784133488139,"version":"3.55.0"},"reference-count":10,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Deoxyguanosine kinase (dGK) deficiency, a rare severe cause of mitochondrial DNA (mtDNA) depletion, has two forms of presentation: hepatocerebral syndrome and isolated hepatic disease. The authors report three cases with neonatal liver failure due to dGK deficiency. Consanguinity was present in all patients. One patient had a brother who died with a probable diagnosis of neonatal haemochromatosis. All patients had progressive cholestatic liver failure, hypoglycaemia, hyperlactacidaemia, elevated ferritin levels and nystagmus, since first day of life. Liver tissue study revealed: cholestasis, iron deposits, microvesicular steatosis and fibrosis\/cirrhosis. Only one patient was submitted to liver transplantation. The other two died, at 2 and 5 months of age. mtDNA quantification and DGUOK gene study should be considered in infants\/neonates with acute liver failure and systematically performed in patients with hepatocerebral presentation. Differential diagnosis with neonatal haemochromatosis is needed. Liver transplantation might be a therapeutic option. Early diagnosis is important for genetic counselling.<\/jats:p>","DOI":"10.1136\/bcr.12.2011.5317","type":"journal-article","created":{"date-parts":[[2012,4,3]],"date-time":"2012-04-03T14:27:16Z","timestamp":1333463236000},"page":"bcr1220115317","source":"Crossref","is-referenced-by-count":29,"title":["Neonatal liver failure due to deoxyguanosine kinase deficiency"],"prefix":"10.1136","author":[{"given":"Susana","family":"Nobre","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Grazina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Pinto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Gon\u00e7alves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu\u00edsa","family":"Diogo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2012,4,3]]},"reference":[{"key":"2025040405271579000_2012.apr02_1.bcr1220115317.1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.63.8.1129"},{"key":"2025040405271579000_2012.apr02_1.bcr1220115317.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.09.006"},{"key":"2025040405271579000_2012.apr02_1.bcr1220115317.3","doi-asserted-by":"publisher","DOI":"10.1002\/lt.21556"},{"key":"2025040405271579000_2012.apr02_1.bcr1220115317.4","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1002\/humu.9519","article-title":"Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.","volume":"29","author":"Dimmock","year":"2008","journal-title":"Hum Mutat"},{"key":"2025040405271579000_2012.apr02_1.bcr1220115317.5","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-1038-z"},{"key":"2025040405271579000_2012.apr02_1.bcr1220115317.6","first-page":"290","article-title":"Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiency.","volume":"23","author":"Goncalves","year":"1995","journal-title":"J Hepatol"},{"key":"2025040405271579000_2012.apr02_1.bcr1220115317.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2005.03.023"},{"key":"2025040405271579000_2012.apr02_1.bcr1220115317.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.03.006"},{"key":"2025040405271579000_2012.apr02_1.bcr1220115317.9","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014328"},{"key":"2025040405271579000_2012.apr02_1.bcr1220115317.10","doi-asserted-by":"publisher","DOI":"10.1097\/00007890-200103150-00009"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr.12.2011.5317","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T18:10:42Z","timestamp":1743790242000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr.12.2011.5317"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,3]]},"references-count":10,"alternative-id":["10.1136\/bcr.12.2011.5317"],"URL":"https:\/\/doi.org\/10.1136\/bcr.12.2011.5317","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,3]]}}}