Figure 2.
Algorithm for metabolic workup of autistic spectrum disease patients evaluated in the medically based autism clinic. Patients are screened with biomarkers of abnormal mitochondrial function in the fasting state. Abnormalities are verified with repeat fasting biomarker testing. For patients with biomarkers for a fatty-acid oxidation defect, other disorders of fatty-acid metabolism are ruled-out before further workup for a mitochondrial disorder. Patients with consistent biomarkers for mitochondrial dysfunction are first investigated for genetic causes of their mitochondrial disorder before considering a muscle and/or skin biopsy. mtDNA, mitochondrial deoxyribonucleic acid; RBC, red-blood cell.