Storage diseases: diagnostic position
Hans H Goebel1, Harald D Müller
1Department of Neuropathology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany. goebel@neuropatho.klinik.uni-mainz.de
Abstract:
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.
Related Concept Videos
Serum Laboratory Studies, Stool Test, Breath Test
Lysosomal Hydrolases
Automated Microbial Diagnostics
Peptic Ulcer Disease III: Clinical Manifestations and Diagnostic Studies
Few clinical manifestations differentiate gastric ulcers from duodenal ulcers. Distinctions in the location, timing, and pain relief are crucial for healthcare providers in differentiating between gastric and duodenal ulcers during clinical assessments.
Differential Staining Technique
Imaging Studies III: Gastrointestinal Motility Studies and Virtual Colonoscopy
Radionuclide Testing
Radionuclide testing is a sophisticated medical technique for assessing gastrointestinal motility. It focuses on gastric emptying and colonic transit time. Radioactive markers track the movement of food through the digestive system, providing insights into gastrointestinal disorders.
In gastric emptying studies, a meal's liquid and solid...

