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MPS IVA is a progressive condition caused by pathogenic variants in the GALNS gene. GALNS is an important part of the body's process of breaking down large sugar molecules called glycosaminoglycans (GAGs). Pathogenic variants in GALNS lead to an accumulation of GAGs in the lysosomes. Lysosomes are the compartments in cells that break down molecules. This accumulation of GAGs causes the symptoms of MPS IVA, which can include skeletal abnormalities, vision and hearing loss, breathing difficulties, and problems with the heart valve. Current treatment is aimed at alleviating symptoms and improving quality of life.
The latest on our research
We are jumpstarting our MPS IVA program to accelerate research on the condition and welcome all parents and caregivers interested in participating and spreading the word to the MPS IVA community.