LSDDB

Mucopolysaccharidoses Ⅲd

This type is also called as Sanfilippo type D. The disease is caused due to defect in N-Acetylglucosamine-6-Sulfatase enzyme. The defective enzyme results in the accumulation of N-acetyl-D-glucosamine, lycosaminoglycans, heparan sulfate and keratan sulfates within the lysosomes. The gene for the defective enzyme GNA is located at 12a14. The clinical manifestations are similar to that seen in MPS 3a and death during the second or third decade of life (Kresse et al., 1980; Robertson et al., 1988, p. 14; Mok, Cao and Hegele, 2003).

Reference :
Kresse, H. et al. (1980) ‘Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation’, Proceedings of the National Academy of Sciences of the United States of America, 77(11), pp. 6822–6826. doi: 10.1073/pnas.77.11.6822.
Mok, A., Cao, H. and Hegele, R. A. (2003) ‘Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase’, Genomics, 81(1), pp. 1–5. doi: 10.1016/S0888-7543(02)00014-9.
Robertson, D. A. et al. (1988) ‘Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14’, Human Genetics, 79(2), pp. 175–178. doi: 10.1007/BF00280560.