The molecular basis of lysosomal and peroxisomal genetic diseases

Abstract

Molecular basis of lysosomal and peroxisomal diseases are at this moment well known. The responsibility of initial diagnosis falls to the family physician. The variation of the clinic symptoms and phenotypes is very large. Most patients show progressive neurological manifestation. Some special phenotypes, such as mucopolysaccharidoses, mucolipidoses and Zelweger’s syndrome allow their diagnostic orientation. This article summarizes the present knowledge about these diseases.