Mitochondrial electron transport chain defect presenting as hypoglycemia - 11/09/11
Abstract |
A profoundly deaf female infant was found to have hypoglycemia and lactic acidemia after an episode of decreased oral intake and vomiting. Electron transport chain (ETC) enzyme studies revealed a combination defect of complexes I, III, and IV in liver but not in skeletal muscle. This case highlights the fact that defects of the ETC are clinically highly heterogeneous and should be considered with hypoglycemia and lactic acidosis in the absence of a glycogen storage disorder. Moreover, ETC defects can occur with a biochemical profile suggestive of a fatty acid oxidation disorder. (J Pediatr 1997;130:431-6)
Le texte complet de cet article est disponible en PDF.Abbreviations : CoA, CS, ETC, FAO, LCHAD, MCAD, mtDNA, nDNA
Plan
 | From the Department of Clinical Genetics and the New South Wales Biochemical Genetics Service, Western Sydney Genetics Program, and the Department of Gastroenterology, Royal Alexandra Hospital for Children, Westmead, Australia; the Murdoch Research Institute and the State Neuropathology Service, University of Melbourne, Melbourne, Australia; and the Department of Paediatrics and Child Health, University of Sydney, Sydney, Australia. |
| Reprint requests: John Christodoulou, PhD, University Department of Paediatrics and Child Health, New Children's Hospital, PO Box 3515, Parramatta, New South Wales 2124, Australia. |
 | 0022-3476/97/$5.00 + 0 9/21/78223 |
Vol 130 - N° 3
P. 431-436 - mars 1997 Retour au numéro
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