Peroxisomal Disorders in Children

doi:10.1017/9781108918978.037

Chapter 37 - Peroxisomal Disorders in Children

from Section IV - Metabolic Liver Disease

Published online by Cambridge University Press: 19 January 2021

Paul A. Watkins ,

Lingxiao Chen and

Nancy Braverman

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

Show author details

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

Peroxisomes are ubiquitous subcellular organelles that are found in essentially all animal and plant cells with the exception of mature anucleated erythrocytes. They carry out many essential biochemical processes, both catabolic and anabolic. Thus, deficiency of numerous peroxisomal proteins essential for structural integrity and metabolic functions causes human disease. These disorders are grouped as either peroxisome biogenesis disorders or isolated peroxisomal protein/enzyme deficiencies. With increased utilization of DNA sequencing as a diagnostic tool, the clinical spectrum of these disorders has expanded, and additional disease genes have been reported. Ultrastructural analysis of hepatic tissue led to the initial association of peroxisomes with human disease. However, not all peroxisomal diseases have liver involvement and thus would not be expected to present to the hepatologist. In this chapter, the focus will be on those diseases in which there is a hepatic component (see Table 37.1).

Type: Chapter
Information: Liver Disease in Children , pp. 671 - 697

DOI: https://doi.org/10.1017/9781108918978.037 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2021

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Chapter 37 - Peroxisomal Disorders in Children

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