Lysosomal storage diseases (LSDs) are a group of more than 50 genetically inherited disorders that are characterised by a deficiency of one or more specific lysosomal enzymes. These disorders affect both children and adults.

Our list of lysosomal diseases has detailed information about each of the diseases as well as live links to medical, research and support group resources on each disease.

The Role of the Lysosome

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. Storage occurs within the lysosome when the recycling process fails. This leads to a lysosomal disease.

A deficiency in specific proteins (enzymes) is the usual cause of this failure. Over time, the amount of storage in the lysosome increases and may lead to severe physical and/or neurological symptoms as the material builds up throughout the body.


Some babies with a lysosomal disease may present with obvious symptoms at birth while others may appear normal at birth, but progressively develop symptoms in the first few years of life. Symptoms may include bone deformities, very short stature, heart and respiratory difficulties, coarse facial features, an enlarged head, tongue, liver and spleen, and, in some patients, brain degeneration. Very severely affected patients may die within the first five or 10-years of life, but disease severity and life expectancy are highly variable. In some cases the onset of the disease occurs in late childhood or adult years.


The estimated combined incidence of all lysosomal storage disorders is about 1 in 5,000 live births. However the incidence of each of the different diseases can range from 1 in 40,000 up to 1 in 2,000,000.

More Information

To learn more about Lysosomal Diseases and latest Research see these links below