Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients.
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.
Garcia-Cazorla
Angels
A
Metabolic Diseases Unit, Department of Pediatrics and Biochemistry, Centre Hospitalier Universitaire Necker Enfants-Malades, Université René Descartes, Paris, France. agarcia@hsjdbcn.org
De Lonlay
Pascale
P
Rustin
Pierre
P
Chretien
Dominique
D
Touati
Guy
G
Rabier
Daniel
D
Slama
Abdel
A
Saudubray
Jean Marie
JM
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
D004272:DNA, Mitochondrial; D045222:Electron Transport Chain Complex Proteins; D002950:Citrate (si)-Synthase