[Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)].

Abstract excerpt

OBJECTIVE: Mucopolysaccharidosis (MPS) types IIIA, B, C, D are a group of autosomal recessive lysosomal storage disorders caused by mutations in one of four genes which encode enzyme activities required for the lysosomal degradation of heparan sulfate. MPSIIIA and MPSIIIB involve deficiencies of heparan N-sulfatase (SGSH) and alpha-N-acetylglucosaminidase (NAGLU). MPS IIIA and MPS IIIB are more common than MPS...

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