MITOCHONDRIAL ELECTRON-TRANSPORT CHAIN DEFECT PRESENTING AS HYPOGLYCEMIA

A profoundly deaf female infant was found to have hypoglycemia and lac tic acidemia after an episode of decreased oral intake and vomiting. E lectron transport chain (ETC) enzyme studies revealed a combination de fect 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 h ighly heterogeneous and should be considered with hypoglycemia and lac tic 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.