Sanfilippo Syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare inherited metabolic disease that affects the metabolism of mucopolysaccharides, a type of complex sugar. This disease is characterized by the accumulation of mucopolysaccharides in the body, which causes progressive damage to various organs and tissues.
Symptoms of Sanfilippo Syndrome
Sanfilippo Syndrome manifests itself in childhood, generally between 2 and 6 years of age. Symptoms can vary in severity, but tend to worsen over time as the buildup of mucopolysaccharides affects more areas of the body. Some of the most common symptoms include:- Delayed psychomotor development
- Behavioral problems, such as hyperactivity, aggression, and sleep disorders
- Impaired speech and communication
- Hyperactivity
- Hyperactivity
- Motor coordination problems
Other symptoms that may occur include:
- Heart problems
- Vision and hearing problems
- Skeletal problems, such as bone deformities
- Epilepsy
- Loss of previously acquired skills
Causes of Sanfilippo Syndrome
Sanfilippo Syndrome is caused by mutations in the genes that encode enzymes responsible for breaking down mucopolysaccharides. These mutations prevent the enzymes from performing their function correctly, leading to the accumulation of mucopolysaccharides in the body. MPS III is an autosomal recessive disease, which means that a child must inherit a mutated copy of the gene from each parent to develop the disease.Types of Sanfilippo Syndrome
There are four different subtypes of MPS III, each caused by mutations in specific genes:- MPS IIIA (Sanfilippo type A), caused by mutations in the SGSH gene
- MPS IIIB (Sanfilippo type B), caused by mutations in the NAGLU gene
- MPS IIIC (Sanfilippo type C), caused by mutations in the HGSNAT gene
- MPS IIID (Sanfilippo type D), caused by mutations in the GNS gene
Diagnosis of Sanfilippo Syndrome
Diagnosis of Sanfilippo Syndrome can be challenging, as the initial symptoms of the disease often overlap with those of other developmental disorders. However, specific tests can be performed to confirm the diagnosis, such as urine analysis to detect the presence of mucopolysaccharides and genetic testing to identify mutations in genes associated with MPS III.Treatment of Sanfilippo Syndrome
Currently, there is no cure for Sanfilippo Syndrome. Treatment focuses on relieving symptoms and improving patients' quality of life. Some treatment options include:- Supportive therapies, such as occupational therapy, physical therapy, and speech therapy to address motor and communication problems
- Medication to control symptoms, such as seizures or problems behavioral
- Surgical interventions to treat specific health problems, such as heart or skeletal problems