Mitochondrial DNA Depletion Syndrome Causing Liver Failure.
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Date
2014-08
Journal Title
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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.
Description
Keywords
Acute liver failure, Genetic diagnosis, Hepatocerebral mitochondriopathy, Metabolic disorders
Citation
Bijarnia-Mahay Sunita, Mohan Neelam, Goyal Deepak, Verma I C. Mitochondrial DNA Depletion Syndrome Causing Liver Failure. Indian Pediatrics. 2014 Aug; 51(8): 666-668.