Lysosomal storage disease

Disorders that result in the accumulation of macromolecular substrates that are normally degraded by enzymes involved in metabolism.

A diverse group of more than 50 progressive diseases.

Individual lysosomal storage disease are rare.

Combined incidence of lysosomal storage disorders is about 1 in 7700 livebirths in Caucasions, with a collective incidence of one in 5000 live births.

Accounts for one third of cases of inborn errors of metabolism in the Arabic population.

These are monogenic disorders, causing pertubation in lysosome functions, leading to metabolic instability, dysregulation of mammalian targeted rapamycin (mTOR), impaired autophagy and neuronal cell death.

Substrate deposition can occur in cells throughout the body.

Substrate accumulation can lead to end-stage renal disease, cerebrovascular, cardiovascular, neurologic, muscular and cardiac diseases.

Therapies did address the underlying lysosomal storage disorders include: enzyme replacement therapy, substrate reduction therapy, molecular chaperoning therapy, gene therapy,  gene editing, and neuroprotective therapies.

Diseses include Gaucher’s disease, Pompe’s disease, Fabry’s disease, and Niemann-Pick diseases type A and B.

70% of the nearly 70 known lysosomal storage disorders affect the CNS.

Can present at any age.

Progressive diseases that can involve many tissues and organs.

Treatment directed a symptomatic relief.

Enzyme and HSCT therapy are beneficial in some cases.


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