LSDDB

Mucopolysaccharidoses Ⅲd

MPS Ⅳ A: This type of MPS is also called as the Morquio type A. It is caused due to the defective enzyme GALNS (N-acetylgalactosamine-6-sulphatase). This leads to the accumulation of its substrates GAGs within the lysosomes causing abnormalities (Harmatz et al., 2013). The GALNS gene encoding the enzyme is located at 16q24.3 (Nakashima et al., 1994).

Reference :
Harmatz, P. et al. (2013) ‘The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects’, Molecular Genetics and Metabolism, 109(1), pp. 54–61. doi: 10.1016/j.ymgme.2013.01.021.
Nakashima, Y. et al. (1994) ‘Mucopolysaccharidosis IV A: Molecular Cloning of the Human N-Acetylgalactosamine-6-sulfatase Gene (GALNS) and Analysis of the 5′-Flanking Region’, Genomics, 20(1), pp. 99–104. doi: 10.1006/geno.1994.1132.