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.

• Authors: Sunita Bijarnia-Mahay, Neelam Mohan, Deepak Goyal, I C Verma
• Journal: Indian pediatrics (Indian Pediatr) Vol. 51 Issue 8 Pg. 666-8 (Aug 2014) ISSN: 0974-7559 [Electronic] India
• PMID: 25129007 (Publication Type: Case Reports, Journal Article)

Topics

• Fatal Outcome
• Genetic Testing
• Humans
• Infant
• Liver Failure (diagnosis, etiology)
• Male
• Mitochondrial Diseases (complications, diagnosis, genetics)