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Lysosomal Storage Disorders 

Lysosomal Storage Disorders
Chapter:
Lysosomal Storage Disorders
Author(s):

Radhika Dhamija

and Lily C. Wong-Kisiel

DOI:
10.1093/med/9780190244927.003.0085
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date: 15 October 2019

Lysosomes degrade macromolecules such as glycosphingolipids, glycoproteins, and glycosaminoglycans. Lysosomal storage diseases are a heterogeneous group of disorders resulting from intracellular accumulation of substrates. Mechanisms of lysosomal storage disorders include primary deficiency of specific hydrolases; defects in activator protein required for enzyme-substrate interaction, in posttranslational modification of enzymes, or in transport of the substrate from lysosomes; or abnormalities of fusion between autophagic vacuoles and lysosomes. Substrate accumulation is slowly progressive, leading to significant morbidity and mortality.

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