Mitochondrial Diseases

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    Taxonomy Code: YF-3000.5080

    A group of diseases that are the result of failures of the mitochondria, cell organelles of rod or oval shape which contain the enzymes for the aerobic stages or cell respiration and thus are the sites of most ATP synthesis. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. Diseases of the mitochondria most commonly affect children (though adult onset is increasingly common), and seem to cause most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems. Depending on the cells affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders, swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.

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    NATIONAL ORGANIZATION FOR RARE DISORDERSActs as a clearinghouse and referral service for information on rare diseases. Maintains a comprehensive rare disease database, which provides families with information on over 1,100 rare disorders. Its networking program links families with other families who are afflicted with similar disorders. Accumulates and disseminates information about orphan drugs and devices, making known their availability. Advocates the needs of people with rare disorders. Provides disease specific medical reports written in lay language. Also offers a Medication Assistance Program for specific drugs and a medical equipment exchange program. Publishes Orphan Disease Update and Resource Guide . Call for more information.NATIONAL ORGANIZATION FOR RARE DISORDERSNATIONAL ORGANIZATION FOR RARE DISORDERS

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