There are 50-70 different rare genetic disorders classified as lysosomal storage diseases (LSD). Those disorders are caused by insufficient or absent production of lysosomal enzymes involved in degradation of complex molecules.
Hypertrophy and dysfunction of cells and organs is caused by storage of metabolic products in lysosomes. Frequently, unmetabolized products are stored in CNS resulting in progressive mental retardation.
Routine biochemistry does not show any pathologic changes in case of LSD which makes it difficult to establish the diagnosis. Polymorphic clinical presentation is one of important causes of wrong or late diagnosis of LSD.
Lysosomal storage diseases are grouped:
- lipid storage diseases
- defects of lysosomal transport
- neuronal ceroid lipofuscinoses
- glycogen storage disease type II (Pompe disease)
There are no known effective treatment methods for the majority of LSD. Enzymatic substitution therapy is available for Gaucher’s disease, Fabry disease, Pompe disease and type I, II and VI mucopolysaccharidoses.
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