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