Journal
INDIAN PEDIATRICS
Volume 51, Issue 8, Pages 666-668Publisher
SPRINGER INDIA
DOI: 10.1007/s13312-014-0475-z
Keywords
Acute liver failure; Genetic diagnosis; Hepatocerebral mitochondriopathy; Metabolic disorders
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Mitochondrial DNA depletion syndromes are disorders of Mitochondrial DNA maintenance causing varied manifestations, including fulminant liver failure. Two infants, presenting with severe fatal hepatopathy. Raised serum lactate, positive family history (in first case), and absence of other causes of acute liver failure. 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. Mitochondrial DNA depletion syndrome is a rare cause of severe acute liver failure in children.
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