The WVU Medicine Children’s Mitochondrial Disorders Clinic is the only clinic of its kind in West Virginia. Our team provides evaluations, management, and continued care for both children and adults with confirmed or suspected mitochondrial disorders across the state and region.
Primary mitochondrial disorders are a group of conditions that results from dysfunction of the human mitochondria.
The mitochondria are considered the powerhouse of our bodies, providing much of the energy needed for the normal health and functions of our body.
Mitochondrial disorders can be primary or secondary. Primary result from mutations in human DNA, including the mitochondrial DNA and nuclear DNA. Secondaries are due to other disease such as autoimmune disorders and diabetes.
Mitochondrial disorders often have vague and nonspecific presentation from lack of energy in multiple organs and tissues, not to mention the accumulation of toxic products like free radicals. Patients may present with one or multiple organ dysfunction such as seizures, stroke, diabetes, developmental delays, muscle weakness, hearing loss, loss of vision, limited movements of eyes, liver dysfunction, intellectual disability, abnormal body movements, poor growth, and others. Mitochondrial disorders can be inherited from the mother (maternal and X-linked inheritance), from either parent, (autosomal dominant), or from both parents (autosomal recessive).
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