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The Mitochondrial Disease Clinic at Cleveland Clinic Children's Hospital accepts referrals for diagnosis and treatment of children suspected to have one of these progressive, multisystemic disorders of energy production. One in 5,000 children is at risk for mitochondrial disorders. Although these disorders are now well-established, diagnosis remains a challenge due to their variability and nonspecificity, and to a lack of reliable biomarkers.
Many presentations
"Patients with unexplained developmental delays, developmental regression, autism, epilepsy or neurodegeneration could all potentially have underlying genetic, mitochondrial or metabolic problems," says Neurometabolism Clinic Director Sumit Parikh, MD. Dr. Parikh is a pediatric neurologist in the Neurogenetics and Neurometabolism Program and a medical advisor for the United Mitochondrial Disease Foundation. The involvement of two or more organ systems without a unifying diagnosis should raise a pediatrician's index of suspicion, he says. Organ systems with high energy demand — including skeletal and cardiac muscle, the endocrine organs, the kidneys, the nonmucosal intestinal tract, the retina, and the central nervous system — are most frequently involved.
Baseline screening advised
Dr. Parikh recommends that pediatricians and family physicians conduct a battery of baseline screening tests when mitochondrial disease is suspected. If results are abnormal or if mitochondrial disease is still suspected, referral to a metabolic specialist is warranted for further evaluation and/or treatment.
For details about recommended lab work, red flags for mitochondrial disease and other helpful information, refer to this article: Haas RN, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Cohen B. Mitochondrial Disease: A Practical Approach for Primary Care Physicians.
Pediatrics 2007;120;1326-1333.
Mitochondrial Disease Clinic staff collaborate with staff in the Center for Inherited Disorders of Energy Metabolism laboratories at Case Western Reserve University.
To refer patients to the Mitrochondrial Disease Clinic, call 216.444.1994. Physicians may reach Dr. Parikh at [email protected].
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