The Neurogenetics/Mitochondrial Disorders/
Lysosomal Storage Clinic

We offer diagnostic evaluation, consultive assistance and management for infants, children and adults with neurodevelopmental/neurometabolic disorders. We have specific expertise in:

Clinical syndromes of developmental delay/regressions/mental retardation
Dystonias
Enzyme replacement therapy
• Lysosomial disorders (infantile, juvenile, late-onset)
• Mitochondrial disorders
Neuronal ceroid lipofucsinosis
Norrie disease

We have a full range of cytogenetic and molecular cytogenetic testing services, have laboratory services for specialized neurogenetic molecular tests and provide coordination of genetic testing, including interpretation of test results, for neurogenetic disorders, using either in-house or outside laboratories.

We are affiliated with the MGH Neurogenetics Unit, and the DNA Diagnostic Lab. We provide genetic counseling and accept research referrals.

We have active affiliations with neuro-ophthalmology, the epilepsy unit, orthopedics, general surgery and dermatology, physical therapy, occupational therapy and speech and language therapy.

Attending Physicians:
Katherine B. Sims, M.D.
David Holtzman, M.D., Ph.D
Marsha F. Browning M.D., MPH.

Staff Members:
Virginia Clarke RN; Research Coordinator for MGH Lysosomal Storage Disorders: Fabry, Pompe and Gaucher:
617-726-8830; vclarke1@partners.org

To schedule an appointment at and for all referrals please call (617) 726-5732.