DEPLETION OF MITOCHONDRIAL DEOXYRIBONUCLEIC-ACID IN A FAMILY WITH FATAL NEONATAL LIVER-DISEASE

We describe a family in which three children of consanguineous parents died of hepatic failure before the age of 3 months. The first child h ad clinical symptoms of liver disease with hypoglycemia that were evid ent at birth. The second child was healthy and has normal development. The third child had severe liver dysfunction noted a few days after b irth. Liver failure also developed in the fourth child soon after birt h. Recently a mitochondrial disorder was considered as a possible caus e. Deficiency of respiratory chain enzymes that contain polypeptides e ncoded 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 pre sentation suggest that liver-specific depletion of mtDNA wets the caus e of the hepatic failure in all three children. We conclude that liver dysfunction with onset in the perinatal period can be caused by deple tion of mtDNA.