{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T18:57:51Z","timestamp":1785524271666,"version":"3.56.0"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,8,21]],"date-time":"2024-08-21T00:00:00Z","timestamp":1724198400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,8,21]],"date-time":"2024-08-21T00:00:00Z","timestamp":1724198400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["EJPRD19\u2010145 GENOMIT I6478\u2010B"],"award-info":[{"award-number":["EJPRD19\u2010145 GENOMIT I6478\u2010B"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Dihydrolipoamide dehydrogenase (DLD) deficiency can, in one of its forms, be a rare cause of acute liver failure. Clinical presentation is nonspecific. Biochemical findings can reflect metabolic block, but vary depending on patient and his condition. Consensus treatment guidelines do not exist. We present a family with five members suffering from DLD deficiency. Patient 1 presented with emesis, mental deterioration, and fulminant hepatic failure, which required high\u2010urgency liver transplantation. His younger brother, patient 2, experienced unexplained hypoglycemia and metabolic acidosis on the second day after cardiac surgery. Three affected younger siblings were asymptomatic. In patients with acute liver failure of unknown etiology urgent metabolic work\u2010up should be done, and whole exome sequencing considered. Liver transplantation remains life\u2010saving treatment option, but its outcome may be dependent on etiology\u2010specific supportive treatment.<\/jats:p>","DOI":"10.1002\/jmd2.12444","type":"journal-article","created":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T01:40:07Z","timestamp":1724290807000},"page":"323-329","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver"],"prefix":"10.1002","volume":"65","author":[{"given":"Mihaela","family":"Mihaljevi\u0107","sequence":"first","affiliation":[{"name":"Department of Pediatrics University Hospital Center Zagreb  Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danijela","family":"Petkovi\u0107 Ramad\u017ea","sequence":"additional","affiliation":[{"name":"Department 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Hospital Center Zagreb and School of Medicine, University of Zagreb  Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filip","family":"Rubi\u0107","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital Center Zagreb and School of Medicine, University of Zagreb  Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"\u010culo \u010cagalj","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital Centre Split and School of Medicine, University of Split  Split Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davor","family":"Mayer","sequence":"additional","affiliation":[{"name":"Institute of Forensic Medicine and Criminalistics, School of Medicine, University of Zagreb  Zagreb 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