EC Number   |
Natural Substrates |
|---|
   3.2.1.50 | (GlcNAcalpha(1-4))n + H2O |
- |
| 3.2.1.50 | (GlcNAcalpha(1-4))n + H2O |
involved in the degradation of heparin and heparan sulfate |
| 3.2.1.50 | more |
mucopolysaccharidosis type IIIB is a lysosomal storage disorder characterized by the defective degradation of heparan sulfate due to a deficiency of alpha-N-acetylglucosaminidase. The clinical severity of mucopolysacchariddosis type IIIB ranges from an attenuated to severely affected Sanfilippo phenotype. Relationship between genotype, cellular biochemistry and clinical phenotype in a F48L/R297X compound heterozygous mucopolysaccharidosis type IIIB patient with an attenuated Sanfilippo phenotype |
| 3.2.1.50 | more |
enzyme deficiency causes the Sanfilippo type B syndrome, i.e. the mucopolysaccharidosis type IIIB, a lysosomal storage disorder, phenotype, overview |
| 3.2.1.50 | more |
enzyme deficiency causes the Sanfilippo type B syndrome, i.e. the mucopolysaccharidosis type IIIB, an autosomal recessive lysosomal storage disorder, overview |
| 3.2.1.50 | UDP-N-acetyl-alpha-D-glucosamine + H2O |
- |
