Sign Up for a Free Account

This is an image preview.
Start a Free Account
to view the full image.

  • Nearly 3,000 illustrations, including video clips of neurologic disorders.

  • Every article is reviewed by our esteemed Editorial Board for accuracy and currency.

  • Full spectrum of neurology in 1,200 comprehensive articles.

Processing of lysosomal hydrolases in mucolipidosis II/III

In people with mucolipidosis II/III, defective GlcNAc-1-phosphotransferase is unable to phosphorylate lysosomal hydrolases in the cid-Golgi network. These hydrolases then leak to the extracellular matrix (ECM). The lack of these lysosomal hydrolases within lysosomes results in the accumulation of storage materials in the lysosomes and disruption of cellular metabolism. (Source: Khan SA, Tomatsu SC. Mucolipidoses overview: past, present, and future. Int J Mol Sci 2020;21[18]:6812. Adapted from: Velho RV, Harms FL, Danyukova T, et al. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: update on GNPTAB and GNPTG mutations. Hum Mutat 2019;40[7]:842-64. Creative Commons Attribution [CC BY] license. http://creativecommons.org/licenses/by/4.0.)