title: Lysosomal storage diseases: cellular pathology, clinical and genetic heterogeneity, therapy.
abstract: Lysosomal storage diseases are genetically determined metabolic diseases characterized by dysmorphology and dysfunction of the lysosomal system. The lysosomal pathology can have different causes; these are (i) the deficiency of a lysosomal enzyme or subunit thereof, (ii) the deficiency of a protein assisting one or more lysosomal enzymes in their catalytic function by activation and/or stabilization, or by substrate presentation, (iii) the deficiency or dysfunction of a lysosomal membrane carrier protein essential for the export of degradation products from the lysosomal interior to the cytoplasm or, (iiii) defective targeting of lysosomal proteins to the lysosomes. This excerpt of an oral presentation given at Eurolab 93 starts with a general introduction on lysosomes and lysosomal storage diseases and devotes attention to current issues in this field.
authors.affiliation: Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
authors.forename: A J
authors.initials: AJ
authors.lastname: Reuser
authors.forename: M A
authors.initials: MA
authors.lastname: Kroos
authors.forename: W J
authors.initials: WJ
authors.lastname: Visser
authors.forename: R
authors.initials: R
authors.lastname: Willemsen
mesh_terms: D006801:Humans; D016464:Lysosomal Storage Diseases / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy