Galactosamine-6-sulfatase deficiency


Galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA), also known as GALNS, is a human gene. This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorde


* Severe skeletal symptoms * Short trunk * Prominent sternum * Short neck * Growth retardation


* Alpha-mannosidosis type II * Aspartylglycosaminuria * Battaglia Neri syndrome * Borjeson Syndrome * Chromosome 6q deletion syndrome