SCIENTIFIC BACKGROUND

ARSB, GALNS, GLB1, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH

Scientific Background

Mucopolysaccharidoses belong to the group of lysosomal storage diseases where the clinical picture is determined by a defect in a lysosomal enzyme that catalyses the gradual breakdown of complex carbohydrates. Mucopolysaccharidoses are caused by disturbances in the breakdown of glycosaminoglycans. The clinical picture depends on the type of mucopolysaccharidosis. Enzyme replacement therapy is now available for a number of these diseases.

 

References

Beck 2015, medgen 27:276 / Giuliani 2012, Genet Mol Biol 35:924 / Beck 2001 Dtsch Arztebl 98: A-2188/B-1891/C-1764

GENES

ARSB, GALNS, GLB1, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH

ASSOCIATED TESTS

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