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Chapter 10 - Metabolic and Storage Disease

Published online by Cambridge University Press:  19 August 2019

Michael T. Ashworth
Michael T. Ashworth
Affiliation:
Great Ormond Street Hospital for Children, London
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Summary

This chapter deals with the inherited metabolic diseases affecting the heart in which there are morphological changes sufficient to permit a tentative diagnosis to be offered by a pathologist. A large first section deals with glycogen storage disorders and is well illustrated. This is followed by discussion of lysosomal storage disorders, including Niemann–Pick disease, sections on mucopolysaccharidosis and of the commoner disorders of lipid oxidation. Disorders of iron metabolism and amino acidurias close the chapter.

Keywords

storagelysosomeglycogenmucopolysaccharidelipidhaemochromatosisGaucherFabryPompeoxidation
Type
Chapter
Information
Pathology of Heart Disease in the Fetus, Infant and Child
Autopsy, Surgical and Molecular Pathology
 , pp. 221 - 242
Publisher: Cambridge University Press
Print publication year: 2019

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