Lysosomal storage disorder

Lysosomal storage disorders (LSDs) are a group of about 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several critical enzymes. If one of these enzymes is defective, the large molecules accumulate within the cell, eventually killing it.

Causes

LSDs are caused by mutations that affect specific proteins, including enzymes, that result in an over-accumulation of certain substances inside the lysosome. These substances can include lipids, glycoproteins, and mucopolysaccharides. The accumulation of these substances can lead to a variety of symptoms, depending on the specific disorder and the type of substance that is accumulating.

Symptoms

The symptoms of LSDs vary, but they can include developmental delay, movement disorders, seizures, dementia, deafness, and blindness. Some people with LSDs also have distinctive physical features, such as coarse facial features, skeletal abnormalities, and short stature.

Diagnosis

Diagnosis of LSDs typically involves a combination of clinical examination, family history, and laboratory tests. These tests can include enzyme assays, genetic testing, and imaging studies.

Treatment

Treatment for LSDs is largely supportive and depends on the specific disorder. Some treatments that may be used include enzyme replacement therapy, substrate reduction therapy, and bone marrow transplantation.

See also

• Lysosome
• Metabolic disorder
• Enzyme replacement therapy
• Bone marrow transplantation

References

Lysosomal storage disorder Resources
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