Storage Diseases: Diagnostic Position

Storage diseases are metabolic multiorgan conditions, which may be divided into lysosomal and nonlysosomal diseases. Disorders of the lysosomal type require electron microscopy for morphological diagnosis. It is the metabolic substrate that determines involvement of the cell type or organ in the ind...

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Bibliographic Details
Published inUltrastructural pathology Vol. 37; no. 1; pp. 19 - 22
Main Authors Goebel, Hans H., Müller, Harald D.
Format Journal Article
LanguageEnglish
Published England Informa Healthcare 01.02.2013
Taylor & Francis
Subjects
Biopsy
Drug-Related Side Effects and Adverse Reactions
drugs
Humans
Lafora Disease - pathology
lipopigments
Lysosomal Storage Diseases - chemically induced
Lysosomal Storage Diseases - pathology
lysosomes
Lysosomes - drug effects
Lysosomes - pathology
Lysosomes - ultrastructure
Microscopy, Electron
Predictive Value of Tests
storage disorders
Vacuoles - pathology
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Summary:Storage diseases are metabolic multiorgan conditions, which may be divided into lysosomal and nonlysosomal diseases. Disorders of the lysosomal type require electron microscopy for morphological diagnosis. It is the metabolic substrate that determines involvement of the cell type or organ in the individual storage disease, allowing extracerebral biopsies, for instance, in the neuronal ceroid-lipofuscinoses (NCL). A hierarchy of tissues biopsied for diagnosis can be based on easy accessibility: blood lymphocytes, skin, conjunctiva, rectum, skeletal muscle. Lysosomal diseases are divided into vacuolar and nonvacuolar ones. NCL display variegated ultrastructural patterns. Drugs may induce lysosomal storage. Finally, polyglucosan body diseases require attention.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
content type line 23
ObjectType-Review-1
ISSN:0191-3123
1521-0758
DOI:10.3109/01913123.2012.670060