MPS III C, also known as Sanfilippo Syndrome Type C, is a rare genetic disorder that falls under the larger category of Mucopolysaccharidosis (MPS) disorders. It is characterized by the deficiency or dysfunction of an enzyme called heparan acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT), which leads to the accumulation of specific complex sugar molecules called heparan sulfate within the body's cells and tissues.
Individuals with MPS III C typically start showing symptoms between the ages of 2 and 6 years. These symptoms may include progressive neurological decline, developmental delay, hyperactivity, intellectual disability, severe speech impairment, sleep disturbances, aggressive behavior, seizures, and joint stiffness. The severity and rate of symptom progression can vary among affected individuals.
As an autosomal recessive disorder, MPS III C is generally inherited when both parents carry a mutated gene for HGSNAT. Genetic testing and counseling are essential for families with a known history of the disorder.
Currently, there is no cure for MPS III C. Treatment options aim to manage symptoms and improve the quality of life for affected individuals. This may include medications to address specific symptoms, physical and occupational therapy, speech therapy, behavioral interventions, and supportive care.
Overall, MPS III C is a rare metabolic disorder that affects an individual's neurological and physical development. It requires a multidisciplinary approach involving various healthcare professionals to provide a tailored care plan for affected individuals and support their families.
