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Lysosomal storage diseases

Lysosomal storage diseases are a group of more than fifty different inherited diseases that affect children and adults. The cumulative frequency is about 1 in 10,000. The estimated incidence of lysosomal storage diseases is 1 in 5,000 births leading to more than 1,000 new cases in Europe each year.

The body is made up of cells that all contain small organelles called lysosomes. Lysosomes have a role in breaking down macromolecules to simple molecules for disposal or recycling within the cell. A deficiency in specific lysosomal enzymes causes the breakdown of certain macromolecules to fail and material to accumulate within the lysosomes. Over time, this level of accumulated macromolecules in the lysosomes increases significantly and can lead to organ enlargement, clinical symptoms and ultimately cell destruction.

For the majority of the lysosomal enzyme deficiencies no specific treatment exists that can cure these diseases. They most often prove to be fatal.

Lysosomal storage diseases links:

Myelin project

European Leukodystrophy Association

United Leukodystrophy Foundation

ISMRD, The International Advocate for Glycoprotein Storage Diseases - Alpha-Mannosidosis

Hunter's Hope