Lysosomal [ly-so-so-muhl] Disease is a family of rare and devastating genetic disorders that affects tens of thousands of people – mostly children – around the world.  At least once every half hour, a child is born with Lysosomal Disease.  It is a disease for which there is no cure.

Children with Lysosomal Disease have been hidden from our sight because their disorders are extremely rare, with names that are  intimidating to pronounce.  Still, Lysosomal Disease touches us all; there are children affected by this ravaging family of disorders in virtually every community around the globe.

Lysosomal Disease encompasses more than 50 genetic disorders that result when a specific organelle in our body's cells – the lysosome – malfunctions.  The lysosome is commonly referred to as the cell’s recycling center because it processes unwanted material into substances that the cell can utilize.  Lysosomes break down this unwanted matter via enzymes, highly specialized proteins essential for survival. 

Lysosomal disorders are triggered when a particular enzyme exists in too small an amount or is missing altogether.  When this happens, substances accumulate in the cell.  In other words, when the lysosome doesn’t function normally, excess products destined for breakdown and recycling are stored in the cell.  This is why Lysosomal Disease is often referred to as Lysosomal Storage Disease. 

Like other genetic diseases, we can inherit any one of these disorders from our parents and pass it on to our children.  Although each disorder results from different gene mutations that translate into a deficiency in enzyme activity, they all share a common biochemical characteristic – all lysosomal disorders originate from an abnormal accumulation of substances inside the lysosome.

Children affected with Lysosomal Disease often die at a young and unpredictable age, many within a few months or years of birth.  Scores of other children die of this disease following years of suffering from various symptoms of their particular disorder.  The symptoms of Lysosomal Disease vary, depending on the particular disorder and other variables like the age of onset, but they are always devastating.  They can include developmental delay, movement disorders, seizures, dementia, deafness and/or blindness.  Some people with Lysosomal Disease have enlarged livers and spleens, pulmonary and cardiac problems, and bones that grow abnormally. 

To learn more about each lysosomal disorder, please refer to the List of Disorders link on our Web site.