4.3.b

Disorders of glycosaminoglycan degradation

  • Alpha-iduronidase deficiency (Mucopolysaccharidosis type 1H, Hurler syndrome, severe; mucopolysaccharidosis type 1S, Scheie syndrome, milder)
  • Iduronate sulfatase deficiency (Mucopolysaccharidosis type 2; Hunter syndrome)
  • Heparan N-sulfatase deficiency (Mucopolysaccharidosis type 3A; Sanfilippo syndrome type A)
  • N-acetylglucosaminidase deficiency (Mucopolysaccharidosis type 3B; Sanfilippo syndrome type B)
  • Heparan-alpha-glucosaminide N-acetyltransferase deficiency (Mucopolysaccharidosis type 3C, Sanfilippo syndrome type C, severe; retinitis pigmentosa type 73, milder)
  • N-acetylglucosamine 6-sulfatase deficiency (Mucopolysaccharidosis type 3D; Sanfilippo syndrome type D)
  • N-acetylgalactosamine 6-sulfatase deficiency (Mucopolysaccharidosis type 4A; Morquio syndrome type A)
  • Beta-galactosidase deficiency, Morquio syndrome phenotype (Morquio syndrome type B)
  • N-acetylgalactosamine 4-sulfatase deficiency (Mucopolysaccharidosis type 6; Maroteaux- Lamy syndrome; arylsulfatase B deficiency)
  • Beta-glucuronidase deficiency (Mucopolysaccharidosis type 7; Sly syndrome)
  • Hyaluronidase deficiency (Mucopolysaccharidosis type 9; Natowicz syndrome)
  • Arylsulfatase G deficiency
  • Beta-xylosidase deficiency

Subnetworks

LSD 1

LSD

Lysosomal storage disorders

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