Mitochondrial DNA Depletion Syndrome Causing Liver Failure.

ABSTRACT

Background: Mitochondrial DNA depletion syndromes are disorders of Mitochondrial DNA maintenance causing varied manifestations, including fulminant liver failure. Case characteristics Two infants, presenting with severe fatal hepatopathy. Observation Raised serum lactate, positive family history (in first case), and absence of other causes of acute liver failure. Outcome: Case 1 with homozygous mutation, c.3286C>T (p.Arg1096Cys) in POLG gene and case 2 with compound heterozygous mutations, novel c.408T>G (p.Tyr136X) and previously reported c.293C>T (p.Pro98Leu), in MPV17 gene. Message Mitochondrial DNA depletion syndrome is a rare cause of severe acute liver failure in children.