[Mitochondrial diseases]

Klin Padiatr. Nov-Dec 1997;209(6):345-56. doi: 10.1055/s-2008-1043974.
[Article in German]

Abstract

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.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Acetyl Coenzyme A / metabolism
  • Adolescent
  • Child
  • Child, Preschool
  • Chromosome Aberrations / diagnosis
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • DNA, Mitochondrial / genetics
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mitochondrial Encephalomyopathies / diagnosis
  • Mitochondrial Encephalomyopathies / genetics
  • Mitochondrial Myopathies / diagnosis*
  • Mitochondrial Myopathies / genetics
  • Pyruvic Acid / metabolism

Substances

  • DNA, Mitochondrial
  • Acetyl Coenzyme A
  • Pyruvic Acid