Clinical symptoms and genetic analysis of certain mucopolysaccharide diseases - IVA type in Viet Nam

Mucopolysaccharide IVA is a rare recessive genetic disease resulting from a deficiency of N 6 sulfatase acetylgalactosamine (galactose 6 sulfatase) - a lysosome’s enzyme necessary to degrade keratan sulfate and chondroitin sulfate. Objectives: To describe clinical characteristics and genetic analysis of 13 children with MPS IVA in National Pediatric Hospital.