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Term / Lysosomal Storage Disorder

Lysosomal storage disorders are a group of approximately fifty inherited disorders that occur when a missing enzyme results in the body’s inability to recycle cellular waste.  Enzymes are special types of proteins required to break down food molecules into fuel during metabolism, the process by which the body gets energy for normal growth and development.  Enzyme deficiencies, or the absence of these enzymes, result in a number of life-changing or life-threatening conditions.

The severity of of the disorder depends on the type and amount of cellular debris that accumulates, but almost all disorders are progressive.  Symptoms of these disorders include developmental delay, movement disorders, seizures, dementia, deafness and/or blindness, incontinence, stiff joints and short stature. Some people with lysosomal storage disorders have enlarged livers (hepatomegaly) and enlarged spleens (splenomegaly), pulmonary and cardiac problems, and bones that grow abnormally.

It is estimated that one in every 5,000 babies born in the U.S. has some form of a lysosomal storage disorder. New lysosomal storage disorders continue to be identified.

The most common of the lysosomal storage disorders include:

  • Tay-Sachs disease
  • Gaucher disease
  • Niemann-Pick disease
  • Pompe disease
  • Fabry disease
  • MPS disorders
  • Hurler Disease
  • Hunter Syndrome
  • Sanfillipo Syndrome
  • Scheie Syndrome
  • Sly Syndrome
  • Maroteaux-Lamy Syndrome

Tay-Sachs disease was first described in 1881, followed by Gaucher disease in 1882.  In the late 1950’s and early 1960’s, de Duve and colleagues made the scientific breakthrough that would lead to an understanding of the underlying cause of of these disorders. In 1963, Pompe disease was the first disease to be identified as a lysosomal storage disorder.

There is currently no cure for lysosomal storage disorders, although umbilical cord blood transplants, bone marrow transplants and enzyme replacement therapy are all being tested with some success.

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