Comprehensive Mitochondrial Clinic

The Comprehensive Mitochondrial Clinic at Children’s Hospital of Pittsburgh of UPMC is the region’s leader in diagnosing and treating mitochondrial disorders in infants, toddlers, adolescents and adults. The team includes pediatric experts from a variety of fields including medical genetics, neurology, genetic counseling and diet/nutrition. Our deep understanding of the unique medical, developmental and behavioral concerns that affect children and adults helps us to better diagnose and treat mitochondrial disorders.

Patients of the Mitochondrial Clinic receive comprehensive, state-of-the-art care in a warm environment supervised by highly trained physicians and staff who are experts in diagnosing a wide variety of neurometabolic disorders, including mitochondrial disorders. Our multidisciplinary team of specialists can conduct a comprehensive neurometabolic assessment, including laboratory testing of various tissue types (blood, urine, and when appropriate skin and/or muscle biopsy, cerebrospinal fluid) and suggest the most appropriate treatment for each patient. Other neurologic testing may include magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), electroencephalogram (EEG) and nerve conduction velocities/electromyogram (NCV/EMG). Treatment includes the consideration of nutritional supplements, as well as managing symptoms that can be complex and involve several subspecialty areas in medicine.

Counseling, education and other support services to address all of the needs of patients and their families are also provided. Genetic counselors are available to help identify families at risk; serve as patient advocates; help families understand genetic disorders and their consequences; and provide supportive counseling and counsel families who may be at risk for inherited conditions. Staff members also help families arrange for physical, occupational and speech therapists, comprehensive developmental assessments and other services and support.

Mitochondrial disorders may include the following symptoms:
•    Epilepsy, developmental delay, cerebral palsy, hypotonia, headaches
•    Vision loss, hearing loss
•    Feeding difficulties such as failure to thrive, reflux/constipation, liver dysfunction, pancreatic dysfunction
•    Cardiac arrhythmias, cardiomyopathy
•    Weakness, exercise intolerance, pain or lack of response to pain
•    Diabetes, thyroid disease
•    Temperature dysregulation

Referral Requirements

For information about a referral, please contact the Comprehensive Mitochondrial Clinic by phone at 412-692-8631.