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New DNA Tests Advances Treatment of Lysosomal Storage Diseases

1993 in the Department of Human Genetics, diagnose, evaluate, and treat patients using a variety of treatment regimens, including the most advanced enzyme replacement technologies, which over the past 15 years have changed the lives of many patients. The Emory center is one of only two centers nationally with an infusion center within a department of genetics. The center combines diagnosis and treatment with laboratory research and clinical trials aimed at learning even more about these inherited diseases.

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.

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, Mucopolysaccharidosis Type VI (MPS VI - Maroteaux-Lamy), and 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).


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