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Chapter 32 - Lysosomal Storage Disorders in Children

from Section IV - Metabolic Liver Disease

Published online by Cambridge University Press:  19 January 2021

By
Pramod K. Mistry ,
Beth L. Thurberg  and
Gregory A. Grabowski
Edited by
Frederick J. Suchy ,
Ronald J. Sokol  and
William F. Balistreri
Edited in association with
Jorge A. Bezerra ,
Cara L. Mack  and
Benjamin L. Shneider
Frederick J. Suchy
Affiliation:
University of Colorado, Children’s Hospital Colorado, Aurora
Ronald J. Sokol
Affiliation:
University of Colorado, Children’s Hospital Colorado, Aurora
William F. Balistreri
Affiliation:
Cincinnati Children’s Hospital Medical Center, Cincinnati
Jorge A. Bezerra
Affiliation:
Cincinnati Children’s Hospital Medical Center, Cincinnati
Cara L. Mack
Affiliation:
University of Colorado, Children’s Hospital Colorado, Aurora
Benjamin L. Shneider
Affiliation:
Texas Children’s Hospital, Houston
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Summary

Lysosomes are membrane-bound cellular organelles that contain multiple hydrolases needed for the digestion of various macromolecules including mucopolysaccharides, glycosphingolipids, cholesterol esters and oligosaccharides. Moreover, the lysosome is emerging as a central hub for nutrient signaling and autophagy to maintain cellular homeostasis. A schematic of the lysosomal system enzyme trafficking and substrate accumulation is shown in Figure 32.1. The lysosomal storage diseases are a group of over 50 diseases that are characterized by defective lysosomal function, leading to an accumulation of specific substrates within the lysosomes and eventual impairment of cellular function that can progress to organ failure. The liver is involved as part of a multisystemic disease in most lysosomal disorders with a wide range of presentations from asymptomatic hepatomegaly with mild abnormalities of liver enzymes to life-threatening liver dysfunction.

Type
Chapter
Information
Liver Disease in Children , pp. 570 - 592
Publisher: Cambridge University Press
Print publication year: 2021

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