About
Lysosomal Storage Disorders (LSDs) are genetic disorders resulting in enzyme deficiencies within the lysosomes of the body’s cells. Lysosomes are the microscopic recycle bins in the cells that store, break down and recycle large unwanted molecules by utilizing very specific enzymes. The presence of an LSD results in an accumulation of these large molecules in the lysosomes resulting in their dysfunction, and ultimately irreversible damage to muscles, nerves and/or certain organs in the body. There are treatments available for these disorders if caught early before symptoms begin to appear in the infant.
Utah currently screens for the following Lysosomal Storage Disorders
