Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease

J Pediatr. 1996 May;128(5 Pt 1):683-7. doi: 10.1016/s0022-3476(96)80135-1.

Abstract

We describe a family in which three children of consanguineous parents died of hepatic failure before the age of 3 months. The first child had clinical symptoms of liver disease with hypoglycemia that were evident at birth. The second child was healthy and has normal development. The third child had severe liver dysfunction noted a few days after birth. Liver failure also developed in the fourth child soon after birth. Recently a mitochondrial disorder was considered as a possible cause. Deficiency of respiratory chain enzymes that contain polypeptides encoded by mitochondrial DNA (mtDNA) and depletion of mtDNA were found in the liver of the fourth child, but mitochondrial abnormalities were absent in muscle of the third child. The similarities in clinical presentation suggest that liver-specific depletion of mtDNA was the cause of the hepatic failure in all three children. We conclude that liver dysfunction with onset in the perinatal period can be caused by depletion of mtDNA.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoradiography
  • DNA, Mitochondrial / genetics
  • DNA, Mitochondrial / isolation & purification*
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Liver Failure / enzymology
  • Liver Failure / metabolism*
  • Liver Failure / pathology
  • Male
  • Mitochondria, Liver / enzymology
  • Mitochondria, Liver / genetics
  • Oxidoreductases / metabolism

Substances

  • DNA, Mitochondrial
  • Oxidoreductases