[Mitochondrial diseases].
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.
Nagel
J D
JD
Zentrum für Kinderheilkunde, Universität Bonn.
Haverkamp
F
F
Lentze
M J
MJ
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000105:Acetyl Coenzyme A / Q000378:metabolism; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders; D004272:DNA, Mitochondrial / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000235:genetics; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000235:genetics; D019289:Pyruvic Acid / Q000378:metabolism
D004272:DNA, Mitochondrial; D000105:Acetyl Coenzyme A; D019289:Pyruvic Acid