Lysosomes are structures in the cells of the body that contain enzymes. Enzymes break down proteins and other substances so the cells can use them for energy. In people with lysosomal storage disorders, the enzymes don’t work properly. Waste builds up in the cells, which can cause a variety of health problems and even be life-threatening if untreated.
There are over 50 lysosomal storage disorders, including Tay-Sachs disease and Gaucher disease. These disorders can affect both children and adults.
Tests
Chorionic Villus Sampling
In this test, doctors take a sample of the placenta. This sample is run through genetic testing to check for problems such as lysosomal storage disorders.
Amniocentesis
For this test, doctors take a sample of the amniotic fluid around the baby in the womb. The amniotic fluid is run through genetic testing.
Genetic Screening
Couples with a family history of lysosomal storage disorders can receive preconception genetic counseling and screening to understand their child’s risk for lysosomal storage disorders.
Blood Tests
These tests are used to check for enzyme deficiencies.
Urine Tests
These tests are used to check for enzyme deficiencies.
Treatments
Clinical Trials
Some types of lysosomal storage disorders have specific treatments, and others don’t. Experimental clinical trial treatments may help patients without other treatment options.
Enzyme Replacement Therapy
Some types of lysosomal storage disorders can be treated by giving affected people the specific working enzymes they need intravenously (through a vein).
Bone Marrow Transplants
Bone marrow transplants may help slow down the progression of some LSDs.
Symptom Management
Some medicines and treatments can help manage symptoms and improve quality of life.
Why Choose UHealth?
A national leader in precision medicine. As leaders in precision medicine, we have been selected by the National Institutes of Health (NIH) as one of 10 sites in the country to participate in the All of Us Research Program. This program finds new ways to deliver personalized care by considering your particular lifestyle, health conditions, and genetics. As one of our patients, you can help change the future of health care and precision medicine, helping future generations receive the specialized care they need.
Innovative treatment designed for you. Using advanced genetic tests, our genetics experts identify the exact cause of the disorder and provide customized treatment. We are one of the most reputable hospitals in South Florida to offer these targeted, personalized treatments as well as the latest clinical trials. This means you get the latest, most advanced approaches.
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