LSDDB

Mucopolysaccharidoses Ⅲa

This type of MPS is classified as Sanfilippo type A disease. It is caused due to the deficiency of heparan sulfate sulfatase. It is caused as a result of autosomal recessive inheritance of SGSH gene located at 17q25. Defective or deficient enzyme affects the catabolism of heparan sulfates resulting in its accumulation within lysosomes. Among the other types of MPS Ⅲ, type A shows early onset of clinical presentations and also known for death at early age (Kamp et al., 1981; Esposito et al., 2000).

Reference :
Esposito, S. et al. (2000) ‘Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects’, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1501(1), pp. 1–11. doi: 10.1016/S0925-4439(99)00118-0.
Kamp, J. J. P. V. D. et al. (1981) ‘Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)’, Clinical Genetics, 20(2), pp. 152–160. doi: https://doi.org/10.1111/j.1399-0004.1981.tb01821.x.