Lysosomal Storage Disorders
Gaucher Disease, Fabry Disease, Mucopolysaccharidoses (Hurler Syndrome, Hunter Syndrome, Tay-Sachs Disease)
People with lysosomal storage disorders need lifelong care. While there is no cure, treatments can reduce symptoms and prevent, delay, or manage medical complications. Our specialists are nationally recognized for their study of lysosomal storage disorders, including the development of new treatments. Our team works with you and your family to improve your or your child’s quality of life.
Comprehensive Care for Lysosomal Storage Disorders
More than 50 diseases are considered lysosomal storage disorders. The most common are Gaucher disease, Fabry disease, Hunter syndrome, Hurler syndrome, Tay-Sachs disease, and Pompe disease. The rare, inherited conditions occur when the body doesn't produce the enzymes needed to help break down certain substances, such as fats, sugars, or proteins.
Lysosomal storage disorders affect many different body systems, including the bones and joints, skin, heart, kidneys, liver, and central nervous system. Physical and intellectual developmental delay may also occur. Because so many different systems can be affected, our team includes many specialists, such as pediatric geneticists, neurologists, endocrinologists, orthopedic surgeons, cardiologists, and others. We work together to manage the complications caused by lysosomal storage disorders.
A Research-Based Approach to Treatment
Everything we learn through our research benefits our patients as soon as possible. This is significant for your care or your child’s because we have been recognized for discovering new and better ways to diagnose and treat inherited metabolic conditions like lysosomal disorders.
- Duke researchers pioneered groundbreaking treatment for Pompe disease -- the only treatment available for this rare, life-threatening condition in which glycogen (a complex form of sugar) builds up in the body’s cells and cannot be cleared.
- Our work continues with promising clinical trials, which provide access to innovative therapies before they become widely available.
- We also partner with patients and their families to monitor treatment progress, identify the challenges they face, and learn how to address their unmet needs. This information helps us provide the best care for you or your child.
Tests and Treatments
We work with your -- or your child’s -- primary care doctor to make it easier to receive care close to home. Typically, you or your child will come to Duke twice a year for follow-up with our specialists.
Early diagnosis can result in better outcomes and disease management. Our team of specialists is involved in diagnosing lysosomal storage disorders. After reviewing your family’s medical history, a diagnosis may be obtained through genetic testing and, when appropriate, prenatal testing.
Living with a lysosomal storage disease means closely monitoring your condition. Ongoing monitoring and tracking of developmental milestones allows us to diagnose problems early. It also allows us to connect you with specialists to prevent complications and reduce symptoms as soon as possible. Tests may include regular heart screenings as well as blood tests to check liver and kidney function.
Enzyme replacement therapy may be used to treat some lysosomal storage diseases, including:
- Gaucher disease
- Fabry disease
- Pompe disease
- Several of the mucopolysaccharidoses, such as MPSI, MPS II, MPSIV, MPSVI, and MPSVII
This intravenous (IV) treatment can improve symptoms associated with the condition.
Substrate reduction therapy is also available for some conditions. These oral medicines remove waste from cells to prevent or reduce symptoms.
Some conditions are treated by a bone marrow transplant. This involves removing damaged cells from the spongy material inside the bone and replacing them with healthy, functioning cells. When performed at an early stage, bone marrow transplant can improve symptoms and prevent damage caused by lysosomal storage disorders.
Family and Support Services
We are here to answer your questions and provide the support you need to care for yourself or your child. Our doctors and nurses will connect you and your family to additional services.
Our child life specialists provide support, education, and guidance to help you and your child during treatment and hospitalization. Child life specialists explain procedures, offer encouragement, and use fun activities to take your child’s mind off treatment.
Our social workers can help you navigate the medical system and coordinate the variety of health services you and your family need. We help you work with insurance providers, connect you with resources, and help you manage details related to your care or your child’s.