The Lysosomal Storage Disease Center provides comprehensive care including consultation, evaluation, testing, diagnosis and treatment to children, teens and adults and their families living with lysosomal disease, a group of approximately 40 rare inherited conditions. We currently specialize in Gaucher disease, Fabry disease and Hurler syndrome. Our team includes experts from UCSF and Stanford, the two leading medical centers in Northern California. We specialize in different areas of medicine related to lysosomal storage disease and work closely together to provide your child with the best possible care.
Lysosomal storage disease is caused by defects in the lysosomes, which are the compartments in the bodys cells that contain enzymes, the chemicals that break down other substances in the body. When a specific enzyme is missing or reduced, various substances build up in the lysosomes. Over time, excessive amounts of substances can cause damage to the body.
Children are most commonly affected by lysosomal storage disease and typically die in their teens or earlier, although some people live into adulthood. The disease causes progressive physical and/or mental deterioration. Symptoms of lysosomal storage disease vary in severity, depending on the particular kind and other factors such as age of diagnosis. They can include developmental delay, movement disorders, seizures, dementia, deafness and/or blindness. Some people with lysosomal storage disease have enlarged livers and enlarged spleens, lung and heart problems.
You'll need a referral from your child's pediatrician or specialist to make an appointment. Once you have the referral, please call the number below.
Lysosomal Storage Disease Center
400 Parnassus Ave., Second Floor, Pediatric Specialties
San Francisco, CA 94143-0978
Phone: (415) 353-2813
Phone: (866) 476-9997
Fax: (415) 476-9976
During your child's first visit, your child will meet with one of our experts who will conduct a thorough physical examination. He or she also will ask about your child's symptoms and record your childs medical history.
Lab tests, such as blood tests, and imagining tests, such as magnetic resonance imaging (MRI) or computerized tomography (CT) scans may also be conducted.
Last updated July 19, 2010
