Mitochondrial diseases: systemic investigations
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Mitochondrial diseases: systemic investigations. Lactate: especially after overnight fast, Fasting glucose. Fully referenced neurology checklist.
Blood tests
- Lactate: especially after overnight fast
- Fasting glucose
- Creatinine kinase (CK)
- Calcium
- Alkaline phosphatase
- Urea and electrolyte
- Thyroid function tests (TFT)
- Acylcarnitine profiles: to exclude lipid disorders
Biomarkers
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Cardiorespiratory tests
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Urine analysis
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Genetic analysis
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References
- Chinnery PF, Turnbull DM. Mitochondrial medicine. Q J Med 1997; 90:657-667.
- McFarland R, Turnbull DM. Batteries not included: diagnosis and management of mitochondrial disease. J Intern Med 2009; 265:210-228.
- Mattman A, O'Riley M, Waters PJ, et al. Diagnosis and management of patients with mitochondrial disease. BC Med J 2011; 53:177-182.
- Rahman S, Hanna MG. Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases. JNNP 2009; 80:943-953.
- Ng YS, Bindoff LA, Gorman GS, et al. Mitochondrial disease in adults: recent advances and future promise. Lancet Neurol 2021; 20:573-584.
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