Nagel J D, Haverkamp F, Lentze M J
Zentrum für Kinderheilkunde, Universität Bonn.
Klin Padiatr. 1997 Nov-Dec;209(6):345-56. doi: 10.1055/s-2008-1043974.
Mitochondrial disease are a heterogeneous group, combining multiple symptoms resulting from defects in various organs. Thus identification of a particular mitochondrial disease due to clinical symptoms is not possible. However, simple biochemical tests can provide guiding and reliable results quickly. We present a classification of the mitochondrial diseases, describing important clinical symptoms and explaining a diagnostic plan to identify defects of biochemical mitochondrial pathways.
