Baseline Screening Tests For Mitochondrial Disease: Initial Evaluation

Metabolic Screening of Blood and Urine for All PatientsAssessment of Systemic Involvement for All PatientsMetabolic Screening of Spinal Fluid for Patient With Neurologic SymptomsClinical Neurogenetic Evaluation for Patient With Developmental Delay
Basic chemistriesEchocardiogramLactate and pyruvateKaryotype
Liver enzymes and ammoniaECGQuantitative amino acidsFragile X syndrome testing
CBCOphthalmologic examinationRoutine studies, including cell count, glucose, and protein measurementChild neurology consult
Creatinine kinaseAudiology testingGenetics consult
Blood lactate, pyruvate, and lactate/pyruvate ratioBrain MRI
Quantitative blood amino acids
Quantitative urine organic acids
Plasma acylcarnitine analysis
  • Negative test results have a high false-negative rate. Thus, if the results are abnormal or if mitochondrial disease is still suspected, refer the patient to a mitochondrial center. CBC indicates complete blood count; ECG, electrocardiogram; MRI, magnetic resonance imaging.

  • Adapted with permission from Haas RH, Parikh S, Falk MJ, et al. Pediatrics. 2007;120(6):1326 –1333.