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Neurometabolic Disorders

Overview

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.

The Pediatric Neurometabolic and Genetic Disorders Program diagnoses and treats children with complex genetic and metabolic disorders, including:

  • Central nervous system white matter disorders
  • Underlying genetic and metabolic disorders in the setting of mental retardation and epilepsy
  • Disorders of amino and organic acid metabolism
  • Lysosomal storage diseases

Cleveland Clinic's Neurometabolism Laboratory provides diagnostic testing for disorders of amino acid metabolism. From a research perspective, the 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.

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