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Mount Sinai – Lysosomal Storage Disease Program

Lysosomal Storage Disease Program
Division of Medical Genetics
1428 Madison Ave (Cross street 99th)
New York, New York, United States
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The Mount Sinai Hospital’s Lysosomal Storage Disease Program is dedicated to the management, treatment, and counseling for pediatric and adult patients with known lysosomal storage diseases (LSDs). Mount Sinai Hospital has been an international leader in the management and treatment of these rare disorders and has been a referral center for patients from all over the world.

Comprised of board certified specialists including medical geneticists, genetic counselors, nurse practitioners, a specialized infusion nurse, a social worker, and clinical and research coordinators, our center has long standing programs in Gaucher, Fabry and Niemann Pick Types A and B disease. It also has expanded to manage patients with Pompe disease, Lysosomal Acid Lipase Deficiency (LALD), Batten disease, and the Mucopolysaccharidoses (MPS).

We have a dedicated Infusion Center where patients with Gaucher, Fabry, Pompe, LALD, Batten disease, and Mucopolysaccharidoses (MPS) can receive regular treatment with enzyme replacement therapy. The Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by missing or absent enzymes that function to break down molecules called glycosaminoglycans.

There is FDA-approved treatment for several forms of MPS. ERT is available for four forms of the disease – Aldurazyme (MPS I), Elaprase (MPS II), Vimizim (MPS IVA), Naglazyme (MPS VI), and Mepsevii (MPS VII). HSCT (stem cell transplant) is also considered a beneficial therapy for three forms of MPS – severe MPS I (Hurler syndrome), MPS VI (Maroteaux-Lamy syndrome), and MPS VII (Sly syndrome).