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About Lysosomal Storage Disorders

Among its many classifications, Pompe disease belongs to a group of more than 40 rare genetic diseases called lysosomal storage disorders (LSDs). Each is caused by a genetic defect, which results in a deficiency of the enzyme responsible for breaking down a substance that then accumulates in cells’ lysosomes. While individually each of these diseases is relatively rare, grouped together they affect 1 in approximately every 7,700 babies born.^[1]

The Role of the Lysosome

The name for lysosomal storage disorders get their name because they are caused by the storage, or accumulation, of waste material and other substances inside a cell’s lysosome. Lysosomes are small compartments within cells where many substances are broken down by enzymes produced by the body. Lysosomes contain a number of different types of enzymes that specifically target a variety of different cellular substances.

What Do LSDs Have in Common?

Pompe disease was first identified in 1932,^[2] but it was not defined as a lysosomal storage disorder until the 1960s, when the disease category was established.^[3] It then became the first condition formally recognized as an LSD. Some of the more common LSDs include Gaucher disease, Fabry disease, and Niemann-Pick disease.

While signs and symptoms vary widely across the different diseases, they are grouped together because they have several features in common. Like Pompe disease, all lysosomal storage disorders:

• Are genetic in basis, meaning they are due to a defect in a gene inherited from the parents
• Involve a deficiency or malfunction of a particular enzyme due to the defective gene
• Result in the storage, or accumulation, of substances within cell lysosomes
• Are progressive in nature, meaning they worsen over time
• Are debilitating and can be life-threatening
• Can be challenging to diagnose because they are rare and often have symptoms similar to those of other, better-known diseases

For a more comprehensive look at lysosomal storage disorders please visit Genzyme's website: www.lysosomallearning.com.

References

1. Meikle PJ, Grasby DJ, Dean CJ et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab 2006 88:307-14.
2. Pompe J-C. Over idiopatische hypertropie van het hart. Ned Tijdscr Geneeskd 1932 76:304. No abstract available.
3. Wilcox, WR. Lysosomal storage disorders: The need for better pediatric recognition and comprehensive care. Journal of Pediatrics 2004 May; S3-S14.

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