The lysosomal storage disorders (LSDs) are a group of genetic disorders resulting from
defective lysosomal metabolism and subsequent accumulation of substrates. Patients
present with a large phenotypic spectrum of disease manifestations that are generally not
specific for LSDs, leading to considerable diagnostic delay and missed cases. Introduction
of new disease modifying therapies for LSDs has made early diagnosis a priority. Increased
awareness, but particularly the introduction of screening programs allow for early diagnosis …