Lysosomal Storage Disease Center

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 many disciplines. Our patients also have access to other experts at UCSF as well as Stanford.

Doctor referral required

Our locations

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    Decorative Caduceus

    Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset OTC Deficiency

    A Phase 1/2, open-label dose-finding safety study of single ascending doses of DTX301 in adults with late-onset OTC Deficiency

    Recruiting

    Decorative Caduceus

    Longitudinal Study of Urea Cycle Disorders

    Urea cycle disorders (UCD) are a group of rare inherited metabolism disorders. Infants and children with UCD commonly experience episodes of vomiting, lethargy, and coma. The purpose of this study is to perform a lon...

    Recruiting

    Support services

    Patient Resource

    Case Management and Social Work

    Connect with a team that can help you find resources, solve problems and advocate for you during treatment at UCSF.

    Class

    Mindfulness-Based Stress Reduction Class

    This eight-week UCSF class teaches mindfulness practices, such as meditation and body awareness, that can reduce stress and improve your overall health.

    Patient Resource

    Patient Relations

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    Patient Resource

    Spiritual Care Services

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

    International Services

    If you live in another country and are coming to UCSF for medical
    treatment, our patient liaisons can help coordinate all aspects of your visit.

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    Interpreters

    UCSF offers language services at no charge for patients with limited
    English, as well as for patients who are deaf or have trouble hearing.

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    Hospital Stays

    Checking into the hospital? Find helpful information by clicking on the relevant “Your Hospital Stay” booklet: Mission Bay, Parnassus or Mount
    Zion.

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    Your Doctor Visit

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    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

    Related clinics

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    San Francisco, CA 94158

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