title: [Lysosomal storage disease: a group of genetic neurodegenerative disorders].
abstract: Lysosomal storage disease is a group of neurometabolic diseases mainly occurring in infancy and childhood. They were first recognized as new diseases on the basis of unique clinical manifestations or pathological findings, and then the stage of biochemical analysis of storage material and enzyme assays in tissues and cells from patients followed. Recent technological development has enabled us to look further into the molecular genetic basis of these inherited diseases. Protein analysis revealed intracellular events of the mutant enzyme molecule responsible for the pathogenesis of a disease, and more detailed information has been obtained about the mutant gene and its product. Clinical manifestations are not always uniform for a single disease with mutations in the same gene. Clinical subtypes have been proposed for many lysosomal diseases. At present, the molecular and metabolic basis of each phenotypic expression is not clear, although common mutations have been found for specific clinical forms in some diseases. In this article, the current status of lysosomal disease research was summarized, particularly focusing on molecular pathology and molecular diagnosis. Finally future prospects for pathogenetic analysis of neural dysfunction and possible gene therapy were briefly discussed.
authors.affiliation: Tokyo Metropolitan Institute of Medical Science.
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
mesh_terms: D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D016464:Lysosomal Storage Diseases / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D008247:Lysosomes / Q000201:enzymology; D009154:Mutation; D016133:Polymerase Chain Reaction