LSDDB

Metachromatic Leukodystrophy

The disease is caused due to the deficiency of Arylsulfatase A enzyme. This deficiency is a result of mutation in either arylsulfatase enzyme or sphingolipid activator protein B which is called as Saposin B or SapB. Mutations in ARSA or PSAP genes result in the disease. The disease is characterized by sulfatide accumulation, axon reduction, astrogliosis and loss of acoustic ganglion neurons. The gene encoding the protein, ARSA is located at 22q13.33 (Shaimardanova et al., 2020).

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