THE MUCOPOLYSACCHARIDOSES - CURRENT ASPEC TS OF DIAGNOSIS AND THERAPY

The mucopolysaccharidoses, first described at the beginning of this ce ntury, are still subject of research. The accumulation of pathological metabolites and the underlying enzyme defects are now correlated to s pecific gene mutations. A comparison of genotype and phenotype of the individual forms of the mucopolysaccharidoses is the subject of ongoin g studies. In many cases, symptomatic treatment was not able to increa se the quality of Life of patients suffering from mucopolysaccharidosi s to a satisfactory degree. International working groups are, thus, cu rrently trying to improve and standardize symptomatic therapies. A cau sal therapeutic approach was attempted by implanting different cells a nd tissues that are able to produce the missing enzymes. Bone-marrow t ransplantations were also performed, but both treatment approaches wer e not very effective and in some cases even proved fatal for the patie nts. An intensive international research effort focuses on enzyme-repl acement therapy and gene therapy. Mucopolysaccharidoses are rare disea ses, affecting only about one hundred patients in Austria. Nevertheles s, Austria plays an active role in researching these metabolic disorde rs.