Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver
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| Názov: | Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver |
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| Autori: | 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 |
| Zdroj: | JIMD Reports, Vol 65, Iss 5, Pp 323-329 (2024) |
| Informácie o vydavateľovi: | Wiley, 2024. |
| Rok vydania: | 2024 |
| Zbierka: | LCC:Diseases of the endocrine glands. Clinical endocrinology LCC:Genetics |
| Predmety: | dihydrolipoamide dehydrogenase deficiency, fulminant liver failure, liver transplant, riboflavin responsiveness, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470 |
| 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. |
| Druh dokumentu: | article |
| Popis súboru: | electronic resource |
| Jazyk: | English |
| ISSN: | 2192-8312 |
| Relation: | https://doaj.org/toc/2192-8312 |
| DOI: | 10.1002/jmd2.12444 |
| Prístupová URL adresa: | https://doaj.org/article/6a408d88d75b46949de9c20df4a09d5b |
| Prístupové číslo: | edsdoj.6a408d88d75b46949de9c20df4a09d5b |
| Databáza: | Directory of Open Access Journals |
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Nájsť tento článok vo Web of Science | Abstrakt: | 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. |
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| ISSN: | 21928312 |
| DOI: | 10.1002/jmd2.12444 |