Lysosomal and Peroxisomal Storage Disease Center

The Emory Lysosomal and Peroxisomal 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.

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Mission

The mission of the Emory Lysosomal and Peroxisomal Storage Disease Center (Emory LSDC) in Atlanta, Georgia is to provide comprehensive diagnostic, evaluation, management, treatment, and cutting edge research services for patients and families living with LSDs and related genetic diseases in order to maximize health outcomes and quality of life.

About Lysosomal and Peroxisomal Storage Diseases

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. In some cases, the diagnosis of an LSD is mistaken for another disorder.

If you're a healthcare provider, please print our diagnostic information page.

LSD Guidelines

Appointments

Lab Testing

Clinical Team

Genetic Clinical Trials Center

History of Emory's LSDC

When Emory's Lysosomal and Peroxisomal 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:

Cystinosis
Fabry disease
Gaucher disease
Lysosomal Acid Lipase deficiency (also known as LAL-D, Wolman disease, or LAL deficiency)
Mucopolysaccharidosis Type I (also known as Hurler, Hurler-Scheie, or Scheie syndrome)
Mucopolysaccharidosis Type II (also known as Hunter syndrome)
Mucopolysaccharidosis Type IVA (also known as Morquio syndrome type A)
Mucopolysaccharidosis Type VI (also known as Maroteaux-Lamy)
Mucopolysaccharidosis Type VII (also known as Sly syndrome)
Late infantile neuronal ceroid lipofuscinosis type 2 (also known as Batten disease or Jansky-Bielschowsky disease)
Pompe disease (also known as acid maltase deficiency or glycogen storage disease type II)
Zellweger spectrum disorders (liver disease symptoms)

A variety of treatment regimes including chaperone therapies, enzyme replacement therapy, and substrate inhibition therapy are currently under development for many LSDs.

Contact Us

Please contact the Emory Lysosomal Storage Disease Center at 404-778-8565 or 800-200-1524 for further information on dates and locations of patient meetings.