Metabolic disorders

A metabolic disorder is a medical disorder that affects the production of energy within individual human (or animal) cells. Most metabolic disorders are genetic, although a few are "acquired," e.g., as a result of diet, toxins, infections. Genetic metabolic disorders are also known as inborn errors of metabolism. In general, the genetic metabolic disorders are caused by genetic defects that result in missing or improperly constructed enzymes necessary for some step in the metabolic process of the cell.

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Services and Programs

• Tennessee Disability Pathfinder - An internet community and statewide helpline
  Phone, web, and print resources in English and Spanish to connect the Tennessee disability community with service providers. Referral services, free of cost, are provided to persons with disabilities, family members, service providers, and advocates.

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Video, Podcast and Images

• Oxysterols in Pathophysiology of Smith-Lemli-Opitz Syndrome
  Video from the monthly developmental disabilities grand rounds series for clinicians, researchers, trainees, and students, held on February 9, 2011. Presented by Zeljka Korade, Ph.D..

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