Journal of Inborn Errors of Metabolism and Screening (Mar 2014)

Lysosomal Storage Diseases

  • Joseph Alroy DVM, DACVP,
  • Jeremiah A. Lyons MVB, PhD, DACVP

DOI
https://doi.org/10.1177/2326409813517663
Journal volume & issue
Vol. 2

Abstract

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Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular molecules. Clinically, they are presented as developmental and neurological symptoms similar to other inherited and acquired disorders. This article reviews the function of lysosomes, the current mechanisms that cause the interruption of recycling, the consequences that are manifested clinically, and the methods to diagnose these disorders.