NEONATAL AND DELAYED-ONSET LIVER INVOLVEMENT IN DISORDERS OF OXIDATIVE-PHOSPHORYLATION

Inborn errors of oxidative phosphorylation have been recognized as pos sible causes of hepatic failure in the neonate, and respiratory enzyme deficiencies have been described in the liver of affected individuals , On the basis of a series of 22 cases, we describe respiratory enzyme deficiency as a cause of early-onset fatal hepatic failure with frequ ent neurologic involvement, In addition, we have identified a delayed- onset form of hepatic failure with a milder clinical course and incons tant neurologic involvement, Thus we suggest that genetic defects of o xidative phosphorylation be considered as a cause of liver dysfunction in infancy, regardless of the severity of the disease.