About the LSD Center
Lysosomal storage diseases (LSDs) are complex, multi-systemic genetic disorders that affect various organs throughout the body. In our body’s cells we have compartments, called lysosomes. Within the lysosomes are enzymes responsible for breaking down many molecules. In LSDs, the enzymes of the lysosomes do not work properly. Consequently, substances build up in the lysosomes overtime and cause damage to the organs and systems of the body. There are more than 50 lysosomal storage disorders described with varying ages of onset, from birth to adulthood. LSDs can present similarly to other disorders, often making them difficult to diagnose outside of a specialty center.
Our center provides detailed diagnostic testing, timely treatments and long-term management. Patients have access to an experienced, multidisciplinary team, including metabolic physicians/geneticists, genetic counselors, physician assistants, neuropsychologists and social workers. We strive to detect and treat LSDs as early as possible in order to achieve the best outcomes for our patients.
Conditions we treat
Lysosomal Storage Diseases are genetic disorders caused by enzyme deficiencies in the body. These deficiencies make it difficult for cells to process or break down metabolites. Accumulation of metabolites in the body can lead to organ dysfunction. There are more than 50 LSD disorders, all of which are complex, chronic diseases that can involve multiple organs. LSDs can be present at birth or develop later in life. Many cases are difficult to diagnose, which can delay essential treatment and frustrate patients seeking answers.
LSDs we treat:
- Mucopolysaccharidosis (MPS) Types I, II, III, IVA, IX, VI, VII
- Pompe disease (glycogen storage disease type II)
- Gaucher disease
- Fabry disease
- Multiple sulfatase deficiency
- Mucolipidosis types I, II (I-Cell), III, IV
- Lysosomal acid lipase deficiency/Wolman disease
- Alpha-mannosidosis
- Gangliosidosis (GM1 & GM2)
- Niemann-Pick types A, B, C
- Danon disease
- Metachromatic leukodystrophy
Resources for families
LSDs are chronic diseases that require diligent medical care and supportive services throughout a patient’s lifetime. Our experienced metabolic physicians, physician assistances and genetic counselors directly care for patients and provide medical expertise every step of the way.
In addition to our team members that provide medical care to patients, we have dedicated staff that help navigate other aspects of the healthcare system and rare diseases. Our case managers help families coordinate appointments and obtain insurance approvals for tests and therapies requiring pre-authorization. In addition, our social worker meets with families to answer insurance-related questions, identify beneficial resources in the community, and support families’ needs.
Research
In addition to clinical care, our team is actively involved in research. We have disease registries for lysosomal storage disorders, such as MPS-I, II, IV, VI, Pompe, Gaucher, Fabry and Acid-lipase deficiency (CESD or Wolman), that allow us to assess the natural history of these rare conditions. The registries help us understand the benefits of enzyme replacement therapies, long-term complications of these disorders, and unmet needs in these patient populations.
Our center is dedicated to staying at the forefront of research by being actively involved in clinical drug and therapy trials. We serve as a site for various trials, giving our patients access to new treatments. We also have clinical research that aims to better understand the monitoring and progression of specific LSDs. As a specialty center, our goal is to participate and remain educated on the emerging LSD research worldwide.