ABSTRACT
Marjan Huizing, J. M. F. Trijbels, J. A. M. Smeitink, L. P. van den Heuvel, and Wim Ruitenbeek University Hospital, Nijmegen, The Netherlands
Fernando Palmieri University of Bari, Bari, Italy
I. INTRODUCTION
Several hundred patients with disturbances in the mitochondrial energy metabo lism have been recognized in the last decades (1,2). Defects have been reported in the oxidation of fatty acids (3), the pyruvate dehydrogenase complex, the citric acid cycle, or in one or more of the multisubunit complexes of the respiratory chain (1,4). Abnormalities in the mitochondrial genome have also been reported (1,2). Mitochondria are present in nearly all types of cells and tissues, but the symptomatology of patients with mitochondrial disorders is very heterogeneous, although organs and tissues with a high energy demand are most often involved in the pathologic process.
