title: Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients.
abstract: We describe the clinical, biochemical, and molecular characteristics of 31 patients with hepatic respiratory chain deficiencies to suggest possible guidelines for a liver biopsy. Initially, 67% of the children did not have any sign of hepatic dysfunction, and 35% presented exclusively with neurologic symptoms. Initial hyperlactacidemia was severe in 52%. Mortality was high (52%) and more marked in newborns; 28% never developed hepatic disease over time despite long-term follow-up. Hepatic, nonspecific multisystem initial symptoms, and constant hyperlactacidemia had significant statistical value as negative prognosis factors. We conclude that liver biopsy should be considered not only in patients with hepatic involvement, but also in patients with predominant neurologic disorders if there is a suspicion of a mitochondrial respiratory chain defect.
authors.affiliation: Metabolic Diseases Unit, Department of Pediatrics and Biochemistry, Centre Hospitalier Universitaire Necker Enfants-Malades, Université René Descartes, Paris, France. agarcia@hsjdbcn.org
authors.forename: Angels
authors.initials: A
authors.lastname: Garcia-Cazorla
authors.forename: Pascale
authors.initials: P
authors.lastname: De Lonlay
authors.forename: Pierre
authors.initials: P
authors.lastname: Rustin
authors.forename: Dominique
authors.initials: D
authors.lastname: Chretien
authors.forename: Guy
authors.initials: G
authors.lastname: Touati
authors.forename: Daniel
authors.initials: D
authors.lastname: Rabier
authors.forename: Abdel
authors.initials: A
authors.lastname: Slama
authors.forename: Jean Marie
authors.initials: JM
authors.lastname: Saudubray
mesh_terms: D002675:Child, Preschool; D002950:Citrate (si)-Synthase / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000378:metabolism; D004579:Electron Transport / Q000502:physiology; D045222:Electron Transport Chain Complex Proteins / Q000378:metabolism; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000201:enzymology* / Q000473:pathology*; D008107:Liver Diseases / Q000201:enzymology* / Q000473:pathology*; D008297:Male; D028361:Mitochondrial Diseases / Q000201:enzymology* / Q000473:pathology*; D017063:Outcome Assessment, Health Care; D012189:Retrospective Studies
chemical_list: D004272:DNA, Mitochondrial; D045222:Electron Transport Chain Complex Proteins; D002950:Citrate (si)-Synthase