Curriculum content on Morquio syndrome. Mucopolysaccharidosis type IV.

Abstract

The objective of this article is to highlight curricular contents on the treatment of elosulfase alfa, which is the only one available for variant A, replacing the lack of the enzyme, but for variant B it is not available, despite clinical descriptions. Morquio Syndrome is an autosomal recessive disease that is part of the group of rare lysosomal storage diseases, and its clinical picture could vary from a severe phenotype to an attenuated form; this is due to the mutation of the N-acetyl-galactosamine-6-sulfate sulfatase gene in variant A, resulting from the deficiency of keratan and chondroitin sulfate catabolism, and by the mutation of beta-galactosidase, resulting from the alteration in the keratan sulfate metabolism.