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There are more than 40 diseases classified as a lysosomal storage disorder (LSD). Lysosomes are components of cells which contain enzymes. These enzymes are responsible for breaking down waste materials in the cells. Lysosomal storage disorders occur when these enzymes are missing or don’t function properly. Each LSD is caused by a problem with a particular enzyme in the lysosome of different cells.
While individually each of these diseases are relatively rare, grouped together they affect approximately 1 in every 7,700 babies born.
Symptoms vary widely across the different LSDs. Some symptoms can be relatively minor, while others can be very serious. There are therapies available for some LSDs, so be sure to speak to your doctor about the best treatment options for you or your loved ones.
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Fabry disease is a rare genetic disorder that can affect both men and women of all ages and races has symptoms which can include burning pain in the hands and feet, inability to sweat, skin rashes, kidney problems, heart problems
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Gaucher disease (pronounced
go-shay
) is a rare genetic disorder that includes symptoms such as easy bleeding, excessive bruising, severe tiredness, anaemia, bone or joint pains, a protr ...
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Mucopolysaccharidosis type 1 (MPS 1) is a very rare genetic disorder that can cause stiffened joints, abnormally shaped bones, a protruding belly, frequent ear infections and bad vision. MPS 1 can affect males and females across all races.
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Pompe disease is a rare genetic genetic disorder caused by a deficiency or dysfunction of an enzyme in the lysosome of certain cells. This enzyme defect results in symptoms such as profound muscle weakness and an enlarged heart.
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