Mucopolysaccharidosis type 3

What is Mucopolysaccharidosis type 3?

A group of rare lysosomal storage diseases characterized by progressive neurocognitive decline, loss of functional abilities and premature death. There are four etiological subtypes of mucopolysaccharidosis type 3 (MPS III, Sanfilippo syndrome) called Sanfilippo syndrome type A, B, C, and D. Each subtype is caused by deficiency of a particular enzyme involved in the degradation of heparan sulfate leading to substrate accumulation and cellular dysfunction.

Other condition names

  • MPS3
  • MPSIII
  • Mucopolysaccharidosis type III
  • Sanfilippo disease

Inheritance type

Autosomal recessive

Prevalence

  • Europe: 1-9 in 1,000 000

Age of Onset

  • Childhood
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