What is Mucopolysaccharidosis? Mucopolysaccharidosis is a lysosomal storage disease caused by the inability to metabolize mucopolysaccharides, also known as glycosaminoglycans (GAGs), fully because of mutations in the genes encoding the enzyme. Accumulation of GAGs progressively damages the cell, tissues, and organ systems.

Most mucopolysaccharidoses have an autosomal recessive inheritance pattern and include diseases, such as Hurler syndrome, Scheie syndrome, Hurler-Scheie syndrome, Hunter Syndrome, and Sanfilippo Syndrome.

Signs and Symptoms of Mucopolysaccharidosis

There are several overlapping features in the different mucopolysaccharidosis, including:

  • Normal appearance and behavior at birth
  • Initial presentation with frequent colds, runny nose, infections, growth, or mild developmental delays.
  • “Coarse” facial features
  • Joint and other skeletal abnormalities
  • Short stature
  • Worsening dysfunction of organ systems resulting in heart abnormalities, trouble breathing, hepatosplenomegaly, and neurological symptoms.

Source: NORD – National Organization for Rare Disorders. (2017a, June 23). Mucopolysaccharidoses. Retrieved May 30, 2022, from