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.

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.

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