Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
J Pediatr. 1997 May;130(5):817-22.

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

Author information

  • 1Département de Pédiatrie, INSERM U-393, Hôpital des Enfants-Malades, Paris, France.

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.

PMID:
9152294
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk