Lysosomal storage disease
|Lysosomal storage disease|
The lysosomal storage diseases are a group of which over forty disorders are currently known 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 the following: (ICD-10 codes are provided where available)
- (E75) lipid storage disorders (including Gaucher's and Niemann-Pick diseases)
- (E75.0-E75.1) gangliosidosis (including Tay-Sachs disease)
- (E75.2) leukodystrophies
- (E76.0) mucopolysaccharidoses (including Hunter syndrome and Hurler disease)
- (E77) glycoprotein storage disorders
- (E77.0-E77.1) mucolipidoses
They're a group of over 40 rare genetic disorders.