LSDDB

Mucolipidosis Ⅲ

This disease is also called as I-cell disease. This is caused due to homozygous and heterozygous mutations in gene encoding Mannose 6 phosphate. Since mannose 6 phosphate functions to tag hydrolases to the lysosomes, its absence misdirects lysosomal enzymes from reaching lysosomes. Eventually, this causes lysosomal malfunction causing accumulation of undigested macromolecules in the form of inclusion bodies. The gene involved is GNPTAB located at 16p13.3 (Singh et al., 2017).

Reference :
Singh, A. et al. (2017) ‘I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis’, The Indian Journal of Pediatrics, 84(2), pp. 144–146. doi: 10.1007/s12098-016-2243-7.