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

Doctor referral required

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Clinical trials

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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

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

The incidence of adverse events (AEs), treatment-emergent adverse events (TEAEs), and serious adverse events (SAEs) for each dosing cohort, assessed by severity and relationship to study product.

Recruiting

Support services

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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.

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Patient Relations

We welcome feedback about your experience at UCSF Health. Find out how to contact us with comments, questions or concerns.

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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.