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Lysosomal Storage Disorders: Gaucher and Fabry Disease

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Greenwood Genetic Center
Lysosomal Storage Disorders: Gaucher and Fabry Disease

There are thousands of known genetic disorders, and the faculty and staff of the Greenwood Genetic Center (GGC) have provided care, testing, and support for families impacted by many of these rare and common diseases.


One group of rare genetic disorders for which the Center has a great deal of experience and expertise is lysosomal storage disorders.


What are Lysosomal Storage Disorders?


Lysosomes are structures within cells that contain digestive enzymes. They play an important role in the body. Lysosomes break down excess carbohydrates, lipids, proteins, and nucleic acids and support the body’s immune response against foreign substances such as bacteria, viruses, and other antigens.


When one of these enzymes is missing, or present in very low levels, the cell cannot break down these excess molecules, so they build up causing a myriad of issues.


There are more than 70 known types of lysosomal disorders. Individually, each of these disorders is considered rare. However, as a group, they affect approximately one in 8,000 births.


Diagnosis and Testing


Blood tests can check for decreased levels of the alpha-GAL enzyme, which is associated with Fabry disease. A low enzyme level is diagnostic for males, however females with Fabry may have normal enzyme levels.


Genetic testing can also be performed using a blood or saliva sample to identify mutations in the GLA gene that causes Fabry disease.


For patients with Fabry disease, providers can order additional tests to determine if any damage has already occurred. These assessments can include an evaluation of a patient’s hearing, vision, kidneys, lungs, brain, and heart.


Treatment


There is no cure for Fabry disease, however, there are several treatment options that help control symptoms.




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