LSDDB

Atypical metachromatic leucodystrophy

This is an atypical form of metachromatic leucodystrophy caused due to Saposin B. However, Arul sulfatase A is not involved in this type of disorder. Mutations in PSAP gene encoding Saposin B located at 10q21.1 (Shaimardanova et al., 2020) causes this disease. From prediction analysis of 4 mutations, none of them were predicted to be neither neutral nor disease by all programs. As far as SNPs&GO and Meta-SNP were concerned, only 1 mutation was predicted as neutral and 3 were predicted disease associated.

Reference :
Shaimardanova, A.A. et al. (2020) ‘Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches’, Frontiers in Medicine, 7. doi:10.3389/fmed.2020.576221.