Naslov
Mutations in the TRMU gene can cause acute liver failure – mind liver transplantation

Autori
Paležac, Lidija ; Mayr, JA ; Ćuk, Mario ; Sarnavka, Vladimir ; Ćorić, Marijana ; Zekušić, Marija ; Bilić, Karmen ; Vuković, Jurica ; Bogović, Marko ; Zimmermann F ; Bogović Zach, T ; Fumić, Ksenija ; Sperl, Wolfgang ; Barić, Ivo

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

Izvornik
Journal of Inherited Metabolic Disease, Suppl 2 Abstracts of ICIEM 2013 / - , 2013

Skup
12th International Congress of Inborn Errors of Metabolism

Mjesto i datum
Barcelona, Španjolska, 03.09.2013. - 06.09.2013

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
TRMU gene; liver failure; mitochondrial disease

Sažetak
TRMU gene mutations cause a deficiency of an enzyme required for the 2-thio modification of mitochondrial tRNA and lead to a combined respiratory chain deficiency secondary to a defect in mitochondrial DNA translation. Clinically they present with acute liver failure in early infancy. Patients who survive the acute phase of disease recover liver function and do not experience recurrence of disease. Various other organ involvement have been described indicating various phenotypes of the disease. It seems that there is no genotype-phenotype correlation. We report an infant with reversible liver failure caused by novel TRMU gene mutation who seems to had among worst biochemical findings among all survivors so far. In the acute phase of disease even liver transplantation was considered. Our patient recovered after a couple of months of intensive supportive care. This case points to necessity to consider TRMU gene mutations in infants with acute liver failure as it is probably much more common than reported and to be cautious concerning liver transplantation because this can turn out to be unnecessary high risk procedure. Recognizing patients with TRMU deficiency and identifying factors which influence the prognosis is crucial for optimal management of these patients.

Izvorni jezik
Engleski

POVEZANOST RADA