Lysosomal storage disease

The lysosomal storage diseases are a group of over thirty disorders that result from defects in lysosomal function.

Lysosomes are cytoplasmic organelles that contain enzymes (specifically, acid hydrolases) that break macromolecules down to peptides, amino acids, monosaccharides, nucleic acids and fatty acids.

The lysosomal storage diseases are classified by the nature of the primary stored material involved, and can be broadly broken into mucopolysaccharidoses, lipid storage disorders, mucolipidoses, leukodystrophies, and glycoprotein storage disorders.

They include Tay-Sachs disease, a gangliosidosis, and Gaucher's and Niemann-Pick diseases, which are lipid storage disorders.

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