title: Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation.
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.
authors.affiliation: Département de Pédiatrie, INSERM U-393, Hôpital des Enfants-Malades, Paris, France.
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: D
authors.initials: D
authors.lastname: Chretien
authors.forename: P
authors.initials: P
authors.lastname: Rustin
authors.forename: A
authors.initials: A
authors.lastname: Rötig
authors.forename: C
authors.initials: C
authors.lastname: Dubuisson
authors.forename: E
authors.initials: E
authors.lastname: Jacquemin
authors.forename: M
authors.initials: M
authors.lastname: Hadchouel
authors.forename: O
authors.initials: O
authors.lastname: Bernard
authors.forename: A
authors.initials: A
authors.lastname: Munnich
mesh_terms: D000410:Alanine Transaminase / Q000378:metabolism; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017093:Liver Failure / Q000201:enzymology / Q000235:genetics* / Q000401:mortality; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D009097:Multienzyme Complexes / Q000172:deficiency* / Q000378:metabolism; D010085:Oxidative Phosphorylation
chemical_list: D009097:Multienzyme Complexes; D000410:Alanine Transaminase