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Chapter 59 - Lysosomal Disorders

from Storage Diseases

Published online by Cambridge University Press:  07 August 2021

Mirna Lechpammer ,
Marc Del Bigio  and
Rebecca Folkerth
By
Mirna Lechpammer
Mirna Lechpammer
Affiliation:
New York University School of Medicine
Marc Del Bigio
Affiliation:
University of Manitoba, Canada
Rebecca Folkerth
Affiliation:
New York University School of Medicine
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Summary

Lysosomal storage disorders (LSDs) are classified as a subgroup of inherited metabolic disorders that consists of more than 50 distinctive conditions [1]. Common to all those disorders is a genetic defect in enzymes or of a lysosomal component, which leads to the accumulation of partially degraded or complete substrates within the lysosomes, thus corrupting cellular function and possibly causing cell death [2, 3]. Accumulation of metabolites is progressive and results in a deteriorated function of affected organs, with the central nervous system being one of the most common [4, 5].

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Chapter
Information
Perinatal Neuropathology , pp. 365 - 377
Publisher: Cambridge University Press
Print publication year: 2021

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