Lysosomal Storage Disease Program

Lysosomal storage diseases are caused by a lack of enzymes that normally eliminate unwanted substances in the cells of the body. The enzymes are found in sac-like structures in cells called lysosomes. Lysosomes act as the "recycling center" of each cell, breaking down unwanted material into simple products for the cell to use to build new material. The lack of certain enzymes causes a buildup of the substance that the enzyme would normally eliminate, and deposits accumulate in many cells of the body. Abnormal storage causes inefficient functioning and damage of the body's cells, which can lead to serious health problems.

There are more than 40 known lysosomal storage diseases, including:

  • Fabry disease - causes kidney and heart problems, pain and a skin rash
  • Gaucher disease - causes the spleen to enlarge, anemia and bone lesions if untreated
  • Hurler syndrome - causes deformities of the skeleton and facial features, enlargement of the spleen and liver, joint stiffness, clouding of the cornea, mental retardation and deafness
  • Niemann-Pick B disease - leads to enlargement of the spleen and liver, as well as lung disease
  • Pompe disease - an often fatal storage disease in which glycogen builds up in the liver, heart and muscle, especially during infancy (also known as acid maltase deficiency)
  • Tay-Sachs disease - a lysosomal storage disease that occurs more commonly in people of Eastern European Ashkenazi descent and causes degeneration of the brain in infants

Many of these disorders are rare, but some occur more often in certain ethnic groups. Because these diseases follow several patterns of inheritance, a person's risk of passing this condition on to his or her children depends on the disease and the individual's family background.


Comprehensive Services

Due to the complexity of lysosomal storage diseases, healthcare by medical experts in the field is vital for patients and their families. Comprehensive services available at Cedars-Sinai's Lysosomal Storage Disease Program include:

  • Consultation and evaluation
  • Diagnostic testing
  • Interaction with and education of referring physicians in providing life-long care
  • Genetic counseling
  • Patient education and support group meetings
  • Research updates and opportunities for participation in clinical trials
  • Treatment and management


Multidisciplinary Team of Experts

The Lysosomal Storage Disease Program at Cedars-Sinai Medical Center, under the direction of William Wilcox, MD, PhD, helps improve patient outcomes by providing personalized and coordinated care of affected individuals and their families. The Program's lysosomal storage diseases specialists work together to anticipate the healthcare needs of patients and their families. Cedars-Sinai's team of experts also work with experts throughout the United States to ensure access to advanced research and current care guidelines for adult and pediatric patients. This multidisciplinary team includes specialists in:

  • Cardiology
  • Endocrinology
  • Gastroenterology
  • Genetics
  • Hematology
  • Nephrology
  • Neurology
  • Neurosurgery
  • Nursing
  • Nutrition
  • Ophthalmology
  • Orthopedics
  • Otolaryngology
  • Pain management


For More Information

For more information about the Lysosomal Storage Disease Program at Cedars-Sinai or to make a referral or an appointment, please contact:

Lysosomal Storage Disease Program
Cedars-Sinai Medical Center
444 S. San Vicente Blvd., Suite 1001
Los Angeles, CA 90048
Phone: 1-800-CEDARS-1 (1-800-233-2771)
Alt Phone: 310-423-9914
Fax: 310-423-0237

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