Naslov
Early onset liver failure due to mitochondrial DNA depletion: clinical course of four patients
(Early onset liver failure due to mitochondrial DNA depletion: clinical course of four patients)

Autori
Petković Ramadža, Danijela ; Žigman, Tamara ; Grizelj, Ruža ; Ninković, Dorotea ; Omerza, Lana ; Aničić, Mirna ; Ćorić, Marijana ; Mayr, Johannes A. ; Feichtinger, René ; Wortmann, Saskia ; Prokisch, Holger ; Fumić, Ksenija ; Vuković, Jurica ; Barić, Ivo

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Archives of disease in childhood, 106 (2021), Suppl 2 / - , 2021, A45-A46

Skup
10th Congress of European Paediatric Association EPA/UNEPSA jointly held with 14 th Congress of Croatian Paediatric Society

Mjesto i datum
Zagreb, Hrvatska, 07.10.2021. - 09.10.2021

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
liver failure ; mitochondrial DNA depletion

Sažetak
Mitochondrial DNA depletion syndromes (MDS) are a group of autosomal recessive disorders caused by disruption of mtDNA maintenance that results in reduced mtDNA content and disturbed energy production. MDS are genetically and phenotypically heterogeneous. One common phenotype is the hepatocerebral form that manifests in first months of life and causes early death due to liver failure. Liver transplantation (LTx) in not recommended in patients with neurological involvement. Our objective is to raise awareness about the clinical spectrum of early onset liver failure due to MDS. We report clinical course and genotype of four patients with hepatocerebral form of MDS.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA