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Lysosomal Storage Diseases
What is lysosomal storage disease?
The lysosome is a part of each cell in your body. Sometimes, the lysosome is called the cell’s recycling center, because it holds enzymes that process unwanted material into substances that the cell can use. Lysosomal storage diseases are disorders that occur when the lysosome doesn’t work correctly.
Lysosomal storage diseases are inherited. Some examples of lysosomal storage diseases are:
What are the symptoms of lysosomal storage diseases?
The symptoms of lysosomal storage disorders vary depending on which syndrome your child has. Many children with lysosomal storage disease have joint stiffness, recurrent hernias, developmental delays, seizures, problems with hearing and sight, and/or problems with the heart and bones.
How are lysosomal storage diseases treated?
Unfortunately, there is no known cure for lysosomal storage disease, but some syndromes can be treated. Careful evaluation and identification of the correct disorder is important to help provide information regarding your child’s future. Families may undergo genetic testing and evaluation so they can determine whether future children would be at risk for lysosomal storage disease.
About treatment for lysosomal storage diseases at Children’s
Children’s genetics program treats children with lysosomal storage diseases by concentrating on relieving symptoms of the condition. One treatment available at Children’s is enzyme replacement therapy. In enzyme replacement therapy, your child is given an infusion intravenously (in the vein) to replace the deficient enzyme. Enzyme replacement therapy has been found to successfully relieve certain symptoms in some types of lysosomal storage diseases, such as Pompe disease, Fabry disease, Gaucher disease, MPS I (also known as Hurler syndrome, Hurler Scheie syndrome and Scheie syndrome), MPS II (also known as Hunter syndrome), and MPS VI (also known as Maroteaux Lamy syndrome).