Lysosomale avleiringssykdommer og enzymerstatningsterapi

Abstract

Objective: The aim of this review is to present lysosomal storage diseases in children with a spesific focus on enzyme replacement therapy. Background: Lysosomal storage diseases is a group of rare genetic disorders caused by defects in lysosomal enzymes or the transport mechanism involving them. This causes an accumulation of substrates which subsequently leads to disease involving many different organ systems depending on the enzyme at fault. Enzyme replacement therapy is one of the treatment options and aims to correct this enzyme deficiency by supplementing recombinant enzyme intravenously. Method: Litterature searches were performed in Medline in the period June-August 2015 using the words lysosomal storage disease , enzyme replacement therapy and lysosomal storage disease AND enzyme replacement therapy . A total of 26 articles were included. Results and conclusion: Lysosomal storage diseases is a group of complex diseases with different phenotypes for each disease and there still is a lot to be understood about the mechanism behind the different symptoms and phenotypes. Enzyme replacement therapy has as of today been approved for Gaucher disease, Fabrys disease, MPS I, MPS II, MPS IVA, MPS VI and Pompes disease. This treatment, if started early enough, has reduced symptoms and/or stabilized the progression of the disease, particularly for the milder phenotypes. However enzyme replacement therapy has proven ineffective for symptoms involving the central nervous system as well as cartilage and bone disease.