engleski

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

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.

liver failure ; mitochondrial DNA depletion

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