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Emory’s Lysosomal Storage Disease Center in Atlanta, Georgia provides diagnostic, evaluation, management, and treatment services for patients from all over the Southeastern United States.  The lysosomal storage diseases (LSDs) are a group of conditions in which certain substances or substrates build up in compartments of the body's cells called lysosomes. Lysosomes contain enzymes that allow cells to digest and recycle the body's substrates or macromolecules. LSDs are caused by missing or poorly functioning enzymes that are unable to perform their normal activities. Over time, excessive amounts of the substrates accumulate and cause damage to the involved systems and organs in the body.

When Emory’s Lysosomal Storage Disease Center was founded in 1993, Type I Gaucher disease was the first and only genetic disorder that could be treated effectively with enzyme replacement therapy (ERT). Since then, treatment has become available clinically for Fabry Disease and Mucopolysaccharidosis Type I (also known as Hurler, Hurler-Scheie, or Scheie syndrome), Mucopolysaccharidosis Type II (also known as Hunter syndrome), Mucopolysaccharidosis Type VI (also known as Maroteaux-Lamy), and Pompe disease (also known as acid maltase deficiency or glycogen storage disease type II). A variety of treatment regimes including chaperone therapies, enzyme replacement therapy, and substrate inhibition therapy are currently under development for many LSDs. The Emory Lysosomal Storage Disease Center is devoted to remaining on the cutting edge of research and treatment providing comprehensive and compassionate care for all of our patients affected by lysosomal storage diseases. To schedule an appointment or speak with a member of our lysosomal storage disease team, call 404-778-8565 or 800-200-1524.

Lysosomal Storage Diseases:  Don't be caught missing this diagnosis