Fluorogenic substrates for the laboratory diagnosis of lysosomal storage diseases
About Lysosomal storage disorders
Lysosomal storage diseases (LSDs) are a group of about 50 rare inherited metabolic disorders that result from defects in lysosomal function. The lysosome is commonly referred to as the cell's recycling centre because it processes unwanted material into substances that the cell can use. Lysosomes break down this unwanted matter by using enzymes. Lysosomal disorders are usually triggered when an enzyme in the process exists in too small an amount or is missing altogether. The symptoms of LSD vary, depending on the particular disorder and other variables, and can be mild to severe. They can include developmental delay, movement disorders, seizures, dementia, deafness, or blindness. LSDs occur with incidences of about 1:5,000 - 10,000 in the general population. The majority of patients are initially screened by enzyme assay, which is the most efficient method to arrive at a definitive diagnosis.