LSDDB

Schindler disease

The disease is a form of neuro-axonal dystrophy. This is caused due to the deficient activity of α-N-acetyl galactosaminidase. Defect in the enzyme causes an accumulation of its substrates ie., glycopeptides and oligosaccharides having moieties of α-N-acetyl galactosamines (Wang, Schindler and Desnick, 1990) within the lysosomes.

Reference :
Wang, A. M., Schindler, D. and Desnick, R. (1990) ‘Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.’, Journal of Clinical Investigation, 86(5), pp. 1752–1756. doi: 10.1172/JCI114901.