[Treatment prospects of lysosomal storage disorders].
Lysosomal storage disorders are caused either by deficiencies or decreased activity of enzymes localised in lysosomal vesicles or transport failure of these enzymes or their substrates. Accumulation of macromolecules destroy cell function presenting in clinical symptoms. Up to date, there are about 40 different lysosomal storage disorders according to the accumulated macromolecules. Till the last decades supportive therapy was the only option by these disorders. Enhanced researches in the last decades have presented some breakthrough results in the field of storage disease therapy. The review briefly introduces the lysosomal storage disorders, summarizes the actual therapy possibilities, as enzyme replacement therapy, substrate deprivation therapy, bone marrow transplantation. Finally, the review outlines future therapeutic potentials, like stem-cell and gene therapy.
Reismann
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Semmelweis Egyetem, Altalános Orvostudományi Kar, II. Belgyógyászati Klinika, Budapest MTA-SE Molekuláris Medicina Kutatócsoport, Budapest. reismann@freestart.hu
Tulassay
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D016026:Bone Marrow Transplantation; D000795:Fabry Disease / Q000201:enzymology / Q000628:therapy; D005776:Gaucher Disease / Q000201:enzymology / Q000628:therapy; D015316:Genetic Therapy; D006009:Glycogen Storage Disease Type II / Q000201:enzymology / Q000628:therapy; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000145:classification / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics / Q000628:therapy*; D008247:Lysosomes / Q000201:enzymology*; D009083:Mucopolysaccharidoses / Q000201:enzymology / Q000628:therapy