Disease

Mucopolysaccharidosis type VII1, 2

Gene

GUSB

Inheritance AR
Current Treatments Vestronidase alfa enzyme replacement, Bone marrow transplantation Hematopoietic Stem Cell Transplantation (HSCT)
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test leukocyte beta-glucuronidase enzyme activity3
Disease Frequency (per 100,000) 0.131
Genes Included in Disease Frequency GUSB
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Mucopolysaccharidosis+VII&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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