Characterization of a novel exonic deletion in the gene causing Morquio A syndrome.

Mucopolysaccharidosis IVA or Morquio A syndrome is a rare lysosomal storage disorder caused by -acetylgalactosamine-6-sulfatase deficiency. A diagnosis can be provided by the identification of reduced -acetylgalactosamine-6-sulfatase activity as well as detection of compound heterozygous or homozygous pathogenic variants in . We present a case of two sisters of healthy non-consanguineous parents with a severe classical phenotype of Morquio A syndrome.