...are a group of more than forty different inherited diseases that affect children and adults. They share common biochemical and clinical defects.

The estimated incidence of lysosomal storage disorders in the Australian population is 1 in 5,000 births, leading to 50 new cases in Australia each year. Despite this, these disorders are not well recognised in the community.

Our bodies are made up of billions of cells. lysosomes are each cell's 'recycling centre'. Their role is to break down complex material to simple products for recycling within the cell to build new complex material.

STORAGE within the lysosome occurs when the recycling process fails.

A deficiency in specific proteins (enzymes) causes the recycling process to fail and material to store. Over time, the level of storage in the lysosome increases and leads to severe physical symptoms as the material builds up in the body.