LSD patients generally undergo a variety of types of medical care. Because many LSDs affect multiple parts of the body, patients frequently see multiple doctors specializing in different areas. Often a specialist in genetic diseases will oversee a patient’s care to monitor disease progression and lead medical decisions.

Since there is no specialized disease treatment that targets the underlying enzyme problem for most of the diseases, care tends to focus on alleviating and managing bodily symptoms. For example, kidney problems might be addressed with dialysis, skeletal problems with corrective surgery, or muscle weakness with physical therapy.

While symptom management is important to all LSDs, there are treatments available for some of the diseases that attempt to correct the underlying enzyme problem:

Bone marrow or hematopoietic stem cell transplant (BMT/HSCT) – Cells are transplanted from a healthy, non-affected person into a LSD patient. While there are risks of transplant rejection and other complications, the goal of BMT or HSCT is to provide stems cells that can lead to the ability to produce the deficient enzyme.

Enzyme replacement therapy (ERT) - An infusion of the missing or faulty enzyme is administered directly into the patient’s bloodstream. The goal of ERT is to provide the appropriate amount of enzyme to allow waste material to be processed; however, ERT does not currently address conditions or symptoms related to the central nervous system.

Substrate synthesis inhibition therapy (SSI): An oral drug is administered. The goal of SSI is to minimize the amount of production and accumulation of waste material, or substrate, within cells. It has the potential to be applied to LSDs with central nervous system involvement or as an adjunct to other treatments.

LSDs are genetic diseases, meaning that people inherit them from their parents, for more information, see the Understanding Genetic Diseases section. When someone is diagnosed with an LSD, it is important to determine whether other family members are affected. For instance, a sibling may also have the disease but have not yet developed symptoms. And parents who do not have the disease but are carrying the mutated gene that causes the disease may consult with a genetic counselor to understand the risks and chances of passing the disease to future children.

An enzyme assay is a test that checks a person’s enzyme levels; low amounts of certain enzymes indicate an LSD. In many cases, this test can even be performed on babies before they are born. Mutation analysis can also check for the presence of a specific gene mutation known to cause a particular disease, and is useful for identifying those who have the mutated gene but normal enzyme levels. This kind of screening can also be useful within certain groups that have higher rates of some LSDs (for example, Gaucher, Tay-Sachs, and Niemann-Pick among Ashkenazi Jews).

It’s also important to consider the mental and emotional impact that LSDs can place on patients and their families. Professional counseling can help patients better manage the difficulties of their disease and the lifestyle changes that may be required. See the Patient Societies page for organizations that can offer information and support.