6533b834fe1ef96bd129e13a
RESEARCH PRODUCT
Storage Diseases: Diagnostic Position
Hans H. GoebelHarald D. Müllersubject
Cell typePathologymedicine.medical_specialtyConjunctivaDrug-Related Side Effects and Adverse Reactionsmedicine.diagnostic_testBiopsyRectumSkeletal muscleDiseaseBiologyPathology and Forensic MedicineLysosomal Storage DiseasesMicroscopy Electronmedicine.anatomical_structureLafora DiseasePredictive Value of TestsStructural BiologyVacuolesImmunologyBiopsymedicineUltrastructureHumansLysosomesdescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2013-02-01 | Ultrastructural Pathology |