MPS III B, also known as Sanfilippo Syndrome type B, is a rare genetic disorder that falls under the category of mucopolysaccharidosis (MPS) type III. MPS III B is an inherited condition caused by a deficiency of an enzyme called alpha-N-acetylglucosaminidase (NAGLU). This enzyme is responsible for breaking down complex sugar molecules, known as glycosaminoglycans (GAGs), within the body's cells. In individuals with MPS III B, the deficiency in NAGLU leads to an excessive accumulation of GAGs in various tissues and organs.
The onset of MPS III B often occurs in early childhood, and its progression is characterized by a range of symptoms including developmental delay, learning disabilities, hyperactivity, aggressive behavior, sleep disturbances, and difficulty communicating. Physical manifestations may include coarse facial features, enlarged liver and spleen, skeletal abnormalities, and joint stiffness.
MPS III B is an autosomal recessive disorder, meaning it requires two copies of the mutated gene (one inherited from each parent) for the condition to develop. Currently, there is no cure for MPS III B, and treatment focuses on managing symptoms and providing supportive care. This may involve physical therapy, speech therapy, educational assistance, and medications aimed at alleviating certain symptoms.
Due to its rarity and the complexity of its symptoms, early diagnosis and specialized medical management are crucial in helping individuals with MPS III B and their families cope with the challenges associated with the condition. Genetic counseling is essential for affected families in order to understand the risk of passing the disorder to future generations.
