Getting a Diagnosis of Mitochondrial Disease Can Be Difficult
"A single blood or urine lab test with normal results does not rule out a mitochondrial disease. This is true for organic acids, lactic acid,
carnitine analysis and amino acid analysis. Even muscle biopsies are not 100% accurate."
carnitine analysis and amino acid analysis. Even muscle biopsies are not 100% accurate."
Once these tests have been performed, experienced physicians diagnose according to specific criteria categorization:
- Unlikely: Criteria – 1-7 tests are normal
- Possible: Criteria – a single test is abnormal and the other tests are normal or equivocal
- Probable: Criteria – two tests are abnormal
- Highly Probable: greater than two tests are abnormal
Metabolic Screening in Blood and Urine (all patients)
Characterize Systemic Involvement (all patients)
Metabolic Screening in Spinal Fluid (patients with neurological symptoms)
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Clinical Neurogenetics Evaluation (patients with developmental delays)
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Information from United Mitochondrial Disease Foundation & Foundation for Mitochondrial Medicine