Medical Genetics and Genomics

Lysosomal Storage Disease Program

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, the Mucopolysaccharidoses (MPS), and Lysosomal Acid Lipase Deficiency (LALD), and Batten disease. We have been involved in clinical research, including natural history studies, disease registries and interventional clinical trials for Gaucher, Fabry, Niemann Pick Type B and Lysosomal Acid Lipase deficiency.

We have a dedicated Infusion Center where patients with Gaucher, Fabry, Pompe, MPS, LALD, and Batten disease can receive regular treatment with enzyme replacement therapy. We also provide consultations, long-term care, and prenatal counseling for couples who are at risk of having a child with a lysosomal storage disease. These consultations serve to discuss all available reproductive options including preconception and prenatal testing.