Disease

Mucopolysaccharidosis IVA1

Gene

GALNS

Inheritance AR
Current Treatments elosulfase alfa enzyme replacement
Evidence for Treatment guideline2
Non-Molecular Testing Availability yes
Non-Molecular Test leukocyte N-acetylgalactosamine 6-sulfatase enzyme activity1
ClinGen https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1010
Disease Frequency (per 100,000) 0.3353, 4
Genes Included in Disease Frequency GALNS
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Mucopolysaccharidosis+IV&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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