In addition to evaluation and diagnosis, specialized care is delivered to patients and families with lysosomal disorders, including Fabry, Gaucher, Pompe, MPS, Mucolipidosis IV, and Neuronal Ceroid Lipofucsinoses (NCL) diseases.

Clinical care and participation in clinical research are aimed at better characterizing the phenotypic variability and natural history of these disorders and in the evaluation of therapies including enzyme replacement therapy and small molecules. Genetic counseling is also an area of expertise.


To schedule an appointment for diagnostic evaluation, medical evaluation and/or genetic counseling please call our clinic secretary or clinic nurse coordinator at 617-726-5732.

Please note that treatment for Fabry, Gaucher, Pompe and MPS is scheduled in medical genetics at Mass General for Children. If you have or suspect a diagnosis of those disorders, please call 617-726-1561.