Author Archives: Emily Malcolm, PhD

Sanfilippo syndrome is a rare genetic disorder characterized by mental and developmental disabilities. Patients are unable to break down a complex sugar molecule called glycosaminoglycans (GAGs), also called mucopolysaccharides. The buildup of these molecules leads to the symptoms of Sanfilippo syndrome. In later stages of the disease, patients…

Being a caregiver for a child with Sanfilippo syndrome can often be stressful and taxing. Studies have shown that caregivers for Sanfilippo syndrome patients report a significant reduction in quality of life, as well as increased anxiety and depression. As a caregiver, it’s important that…

If you have a child with Sanfilippo syndrome, you may be wondering whether having another child may put that child at risk of inheriting the disease as well. How is Sanfilippo syndrome inherited? Sanfilippo syndrome is caused by mutations in genes that provide instructions for cells…

Sanfilippo syndrome refers to a group of disorders caused by mutations in genes that provide instructions for making proteins that play a role in the pathways for breaking down large sugar molecules called GAGs (glycosaminoglycans). These mutations cause GAGs to build up in cells and tissues, interfering with…

The prevalence of Sanfilippo syndrome in the general population is about 1 in 70,000 people. However, if you are a carrier of the disease, the risk of passing the rare metabolic disorder onto your children is much higher. A carrier of Sanfilippo syndrome has a single copy…

Sanfilippo syndrome (also called MPS III) is a rare genetic disease characterized by neurodegeneration, or the death of nerve cells. There are four subtypes of Sanfilippo syndrome, marked as A, B, C, and D. Patients have one of these types based on their genetic mutations. Sanfilippo syndrome…

Genetic counseling helps you understand how a genetic disease can affect you and your family, and your risk of transmitting the disease to your children. If you have a child with Sanfilippo syndrome, you might benefit from genetic counseling. The counselor can discuss whether you or other family…

Sanfilippo syndrome is a lysosomal storage disorder. Mutations in one or more of four genes — GNS, HGSNAT, NAGLU, and SGSH — can cause the disease.

Patients with rare diseases like Sanfilippo syndrome can help with research into treatments for the disease by participating in clinical trials. They may also have access to new treatments being developed, which would otherwise not be available to them. What are clinical trials? Clinical trials are research…

Sanfilippo syndrome is a type of mucopolysaccharidosis (MPS), which are lysosomal storage disorders. The lysosome is a compartment within cells that functions as the “garbage collectors,” collecting cellular waste and recycling it. In lysosomal storage disorders, the lysosome cannot function normally and various toxic materials…