Lysosomal Diseases

The lysosomes, membrane-bound cytoplasmic organelles, are rich in the hydrolytic enzymes that are essential for the degradation of complex lipids, complex carbohydrates, and mucopolysaccharides. Mutations in genes encoding these enzymes cause partial or complete loss of enzymatic activity, which then results in the accumulation and storage of the corresponding substrates within the lysosomal compartment. Lysosomal diseases are classified according to the chemical composition of the stored material:

• Neuronal lipidoses

• Neuronal ceroid lipofuscinoses

• Carbohydrate disorders

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