Indian pediatrics · 2014
Mitochondrial DNA depletion syndrome causing liver failure.
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Bijarnia-Mahay Sunita, Mohan Neelam, Goyal Deepak, Verma I C
Аннотация
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.
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.