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There are more than 40 known lysosomal storage disorders, which prevent enzymes from eliminating toxins from the body's cells.
The UC Irvine Health Lysosomal Storage Disorder Study program is run by a team of specialized healthcare providers, including doctors, nurses and genetic counselors, who have experience diagnosing and treating these rare disorders.
Lysosomal storage disorders are caused by a change in important genetic information in a person's DNA.
This change means the body may not be able to make specific kinds of proteins, called enzymes. Each enzyme is responsible for breaking down, or digesting, a certain compound in the body. There are a group of enzymes that normally get rid of unwanted substances in the body. A lack of these enzymes leads to a lysosomal storage disorder.
When an enzyme is missing, the compound it should break down builds up in the body. This is because the body does not have a way to dispose of the compound without the enzyme. The body stores the compound in the lysosomes, small compartments within the body's cells.
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.
As compounds build up in the lysosomes, the cells can become damaged and unable to do their jobs. This progressive storage of materials in the lysosomes causes damage to cells and organs.
This is why it is important to work with a healthcare team familiar with the condition.
Many of these disorders are rare, but some occur more often in people of certain ethnic groups. Because these disorders can be inherited, a person's risk of passing this condition on to his or her children depends on the disease and the individual's family background. Genetics professionals can help answer questions about these disorders.
The complexity of lysosomal storage disorders makes it important for patients and their families to be followed by a team of healthcare providers and medical experts who are familiar with the conditions. Our specialized team of experts offers comprehensive services including:
We know that a lysosomal storage disorder diagnosis can be frightening. We plan meetings with you, your immediate family, extended family members, and healthcare providers involved in your care. We answer your questions, discuss what to expect as well as treatment strategies and risks to other members of the family.
The Lysosomal Storage Disease (LSD) Registry Program (including but not limited to, Gaucher, Fabry, MPS I, and Pompe Diseases) is a longitudinal, international, observational database that tracks outcomes of routine clinical practice for patients with these LSD diseases. Data collected from these physicians will represent LSD disease practice patterns under common clinical conditions. Thus, the data collected by this international, collaborative Registry will provide information to better characterize the natural history and progression of these LSD diseases, as well as the clinical responses of patients whose physicians have prescribed ERT when ERT is available. Here at UC Irvine, we will be participating in the Gaucher, Fabry, MSP I F, and Pompe Diseases’ Registries.