Abstract
The lysosomal and peroxisomal disorders are characterized by specific storage affecting mainly the central nervous system with involvement of the peripheral nervous system and visceral organs. Most of these disorders can now be diagnosed by using biochemical and enzymatical assays and by molecular biology techniques, without the need for a brain biopsy used previously. Extraneural tissue biopsies have also been investigated at the ultrastructural level. The study of such tissues is still necessary when the enzymatic or biochemical defect remains unknown and when DNA studies are not informative. The choice of tissue is important. Skin and conjunctival biopsies are less traumatic and are cost-effective diagnostic tools allowing the examination of a great diversity of structures. Skeletal muscle and peripheral nerves are more frequently used for patients with a late-onset or slower course of disease. Rectal biopsy is helpful when neurons require examination in lysosomal diseases, whereas liver is more usually investigated than adrenal or testis in peroxisomal diseases. Bone marrow is most useful for Gaucher's disease while lymphocytes may be examined for all lysosomal disorders as a first diagnostic approach. Chorionic villi still have a diagnostic role in combination of electron microscopy with DNA studies in early pregnancies at-risk for neuronal ceroid lipofuscinosis. Cultured fibroblasts are less informative than other biopsy samples for the morphological evaluation of lysosomal and peroxisomal disorders.