Normal human cells contain a built-in recycling and "waste" disposal system called lysosomes -- parts of the cell containing enzymes that break down unused molecules. A group of more than 40 inherited genetic disorders causes enzymes within the lysosomes to malfunction, which makes waste products accumulate in cells. This leads to progressive tissue and organ damage in children and adults ranging from mild to life threatening.
Researchers and physicians in Emory's Lysosomal Storage Disease Center in the Department of Human Genetics are treating these patients using the most advanced enzyme replacement technologies, which over the past 15 years have changed the lives of hundreds of patients. The Emory center is one of only two centers nationally who have opened a genetic based infusion center within a department of genetics. The new genetic based infusion center allows the center to combine enzyme replacement therapy with research aimed at learning even more about these inherited diseases.
Emory's Lysosomal Storage Disease Center was established in 1993 to diagnose, evaluate, and treat patients affected by lysosomal disorders. Type I Gaucher disease was the first genetic disorder that could be treated effectively with enzyme replacement therapy (ERT). Over the past decade ERT has become available for Fabry Disease, MPS VI (Maroteaux-Lamy), and Mucopolysaccharidosis Type I (MPS I - Hurler, Hurler-Scheie, or Scheie syndrome). ERT also is in development for other lysosomal storage conditions including Pompe (also known as Glycogen storage disease type II), MPS II (Hunter Syndrome), Niemann-Pick Disease, and MPS IV (Morquio syndrome). Further research focused on other approaches to the treatment of lysosomal storage disease is also underway at Emory and other centers.
Lysosomal storage diseases are difficult to identify because symptoms often mimic those of more common diseases, and symptoms may develop very gradually. Patients often visit many physicians before their condition is accurately diagnosed. Early diagnosis is critically important, however, because progressive accumulation of waste material in cells can cause irreversible damage. Some symptoms are considered hallmarks of lysosomal storage diseases. These include unusual facial features, an enlarged tongue, cloudiness in the eyes, a purplish-blue skin rash, distended belly, failure to grow, and muscle weakness or decline in motor skills.
"Emory's Department of Human Genetics is participating in a number of clinical trials to improve the treatment of lysosomal storage diseases," says Emory geneticist and pediatrician Paul M. Fernhoff, MD, the center's medical director. "These trials, along with basic laboratory research, are leading us closer to better diagnosis and more effective treatment of these challenging diseases."
Emory's Lysosomal Storage Disease Center includes two physicians who are board certified in clinical genetics and pediatrics and four board-certified genetics counselors. It is located in the Department of Human Genetics at 2165 N. Decatur Rd. To schedule an appointment or to speak with a member of the lysosomal storage disease team, call 404-778-8565 or 1-800-200-1524.