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Lysosomal Storage Disease Center

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(866) 476-2757

The UCSF Lysosomal Storage Disease Center provides comprehensive care to patients with lysosomal storage disorders and their families. Our services include consultation, examination, testing, diagnosis, treatment and genetic counseling.

These inherited diseases are caused by problems with lysosomes, components of cells that contain enzymes (chemicals that break down various substances). When a particular enzyme is missing or inadequately supplied, these substances can build up to abnormal levels and cause symptoms.

There are many different lysosomal storage diseases. Treatment is currently available for Gaucher disease, Fabry disease and Hurler syndrome.

Because these diseases affect many different systems in the body, our team includes specialists in a variety of disciplines, and we work closely with other UCSF experts as needed.

Doctor referral required

Our locations

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    Decorative Caduceus

    Longitudinal Study of Urea Cycle Disorders

    hyperammonemia, developmental disabilities, long-term renal and hepatic effects, and case-fatality associated with the various forms of UCD

    Recruiting

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    Chaplains representing many faiths are available around the clock to provide support, comfort and counsel to patients, families and caregivers.

    Preparing for your appointment

    What to Bring

    • Photo I.D.
    • Health insurance card
    • Insurance authorization, if required
    • Doctor's referral, if required
    • Recent test results related to your condition
    • List of your medications, including dosages, plus any you're allergic to
    • List of questions you may have
    • Device or paper for taking notes

    International Services

    If you live outside the United States and are coming to UCSF for medical treatment, our patient liaisons can help coordinate all aspects of your visit.

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