The fields of neurogenetics and neurometabolism are serving increasingly important roles in the evaluation and care of both children and adults having a variety of developmental and neurological concerns. At The Cleveland Clinic there are several staff within the Department of Neurology who have interest and expertise in the diagnostic work-up and clinical care for persons with a wide variety of neurogenetic and neurometabolic conditions. To obtain an appointment for a clinical evaluation, please contact
Our physicians have direct access to the Center for Inherited Disorders of Energy Metabolism: a renowned clinical and research laboratory with expertise in the biochemical diagnosis of mitochondrial disease, and are part of the Cleveland Mitochondrial Institute. With these resources, we are able to provide expert diagnosis and care of those with possible mitochondrial disease.
In addition, as part of our effort to provide comprehensive clinical service, we have recently created The Cleveland Clinic Neurometabolism Laboratory. This laboratory now provides diagnostic testing for disorders of amino acid metabolism. We are currently setting up testing for the lysosomal storage disorders. Additional testing is planned. From a research perspective, The Cleveland Clinic Neurometabolism Lab is involved in the development of new diagnostic tests for genetic metabolic diseases, studies on the regulation of lysosomal enzymes, and intensive evaluation of selected patients thought to have new genetic disorders. For more information, please contact Dr. Parikh's office at the phone number listed above.
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