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Definition

A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.

Acronym

MPS3C

Synonyms

Acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency
MPS IIIC
Mucopolysaccharidosis type IIIC
Sanfilippo syndrome C

Keywords

Mucopolysaccharidosis

 
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