Lysosomal Storage Diseases

AUTOR(ES)

Alroy, Joseph

FONTE

J. inborn errors metab. screen.

DATA DE PUBLICAÇÃO

15/07/2019

RESUMO

Abstract 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.

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