| Autor: |
Mihaela Mihaljević, Danijela Petković Ramadža, Tamara Žigman, Ivana Rako, Slobodan Galić, Toni Matić, Filip Rubić, Ivana Čulo Čagalj, Davor Mayer, Ante Gojević, Stanko Ćavar, Marijana Ćorić, Melanie T. Achleitner, Johannes A. Mayr, Ksenija Fumić, Jurica Vuković, Ivo Barić |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
JIMD Reports, Vol 65, Iss 5, Pp 323-329 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2192-8312 |
| DOI: |
10.1002/jmd2.12444 |
| Popis: |
Abstract 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‐urgency 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‐up should be done, and whole exome sequencing considered. Liver transplantation remains life‐saving treatment option, but its outcome may be dependent on etiology‐specific supportive treatment. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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