Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation

J Pediatr. 1997 May;130(5):817-22. doi: 10.1016/s0022-3476(97)80027-3.

Abstract

Inborn errors of oxidative phosphorylation have been recognized as possible 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 frequent neurologic involvement. In addition, we have identified a delayed-onset form of hepatic failure with a milder clinical course and inconstant neurologic involvement. Thus we suggest that genetic defects of oxidative phosphorylation be considered as a cause of liver dysfunction in infancy, regardless of the severity of the disease.

MeSH terms

  • Alanine Transaminase / metabolism
  • Child, Preschool
  • Humans
  • Infant
  • Infant, Newborn
  • Liver Failure / enzymology
  • Liver Failure / genetics*
  • Liver Failure / mortality
  • Metabolism, Inborn Errors / enzymology
  • Metabolism, Inborn Errors / genetics*
  • Multienzyme Complexes / deficiency*
  • Multienzyme Complexes / metabolism
  • Oxidative Phosphorylation*

Substances

  • Multienzyme Complexes
  • Alanine Transaminase