Problem
Sanfilippo syndrome
Other Names:
Mucopolysaccharidosis III Nature:
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. It is caused by a buildup of large sugar molecules called glycosaminoglycans (GAGs, or mucopolysaccharides) in the body's lysosomes.
Affected children generally do not show any signs or symptoms at birth, although some early indicators can be respiratory issues at birth, large head size, and umbilical hernia. In early childhood, they begin to exhibit signs of developmental disability and loss of previously learned skills. In later stages of the disorder, they may develop seizures and movement disorders. Patients with Sanfilippo syndrome usually live into adolescence or early adulthood.
Broader Problems:
Mucopolysaccharide diseases Related UN Sustainable Development Goals:
Problem Type:
G: Very specific problems Date of last update
04.10.2020 – 22:48 CEST