LYSOSOMAL STORAGE DISEASES - CELLULAR PATHOLOGY, CLINICAL AND GENETIC-HETEROGENEITY, THERAPY

Lysosomal storage diseases are genetically determined metabolic diseas es characterized by dysmorphology and dysfunction of the lysosomal sys tem. The lysosomal pathology can have different causes; these are (i) the deficiency of a lysosomal enzyme or subunit thereof, (ii) the defi ciency of a protein assisting one or more lysosomal enzymes in their c atalytic function by activation and/or stabilization, or by substrate presentation, (iii) the deficiency or dysfunction of a lysosomal membr ane carrier protein essential for the export of degradation products f rom the lysosomal interior to the cytoplasm or, (iiii) defective targe ting of lysosomal proteins to the lysosomes. This excerpt of an oral p resentation given at Eurolab 93 starts with a general introduction on lysosomes and lysosomal storage diseases and devotes attention to curr ent issues in this field.