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Titolo:
MITOCHONDRIAL RESPIRATORY-CHAIN DEFECT - A NEW ETIOLOGY FOR NEONATAL CHOLESTASIS AND EARLY LIVER INSUFFICIENCY
Autore:
GONCALVES I; HERMANS D; CHRETIEN D; RUSTIN P; MUNNICH A; SAUDUBRAY JM; VANHOOF F; REDING R; DEGOYET JD; OTTE JB; BUTS JP; SOKAL EM;
Indirizzi:
UNIV CATHOLIQUE LOUVAIN,CLIN ST LUC,SERV PEDIAT,10 AV HIPPOCRATE B-1200 BRUSSELS BELGIUM UNIV CATHOLIQUE LOUVAIN,CLIN ST LUC,SERV PEDIAT B-1200 BRUSSELS BELGIUM UNIV CATHOLIQUE LOUVAIN,CLIN ST LUC,SERV CHIRURG PEDIAT B-1200 BRUSSELS BELGIUM INSERM,U393,UNITE RECH HANDICAPS GENET ENFANT PARIS FRANCE HOP NECKER ENFANTS MALAD,UNITE GENET MED PARIS FRANCE
Titolo Testata:
Journal of hepatology
fascicolo: 3, volume: 23, anno: 1995,
pagine: 290 - 294
SICI:
0168-8278(1995)23:3<290:MRD-AN>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
C-OXIDASE DEFICIENCY; TRANSPLANTATION; FAILURE;
Keywords:
CIRRHOSIS; LACTIC ACIDOSIS; METABOLIC DISEASE; MITOCHONDRIAL DISEASE; NEONATAL CHOLESTASIS; NEONATE; ORTHOTOPIC LIVER TRANSPLANTATION; RESPIRATORY CHAIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
15
Recensione:
Indirizzi per estratti:
Citazione:
I. Goncalves et al., "MITOCHONDRIAL RESPIRATORY-CHAIN DEFECT - A NEW ETIOLOGY FOR NEONATAL CHOLESTASIS AND EARLY LIVER INSUFFICIENCY", Journal of hepatology, 23(3), 1995, pp. 290-294

Abstract

Two siblings presented with neonatal cholestasis and early liver insufficiency. The older was admitted for end-stage cirrhosis with severe hypoglycemia and had long-term successful liver transplant at the age of 15 months. The second child presented a similar neonatal history ofcholestasis, hypoglycemia, hyperlactacidemia, liver insufficiency andprogressive cirrhosis. Extensive work-up excluded all known causes ofneonatal cholestasis, Gluconeogenesis was found normal following alanine and fructose infusion. Repeated hypoglycemia with early post-prandial hyperlactacidemia led us to investigate the mitochondrial respiratory chain enzyme activities. Selective defects of complexes I, III andIV, coded by mitochondrial DNA, were detected in liver tissue of thispatient and on preserved frozen tissue from his sibling, whilst normal activities were found in liver tissue samples from control patients with end-stage liver diseases, No extrahepatic manifestations were found, We conclude that liver deficiency of mitochondrial respiratory chain enzymes may cause liver disease in neonates, associated with hypoglycemia and post-prandial hyperlactacidemia, The disease is cured by liver transplantation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 15:38:10