Lysosomal Storage Disorders

If your child has a lysosomal storage disorder, it means certain enzymes are missing or do not work the way they should. If the substances cannot be broken down, it can lead to cell damage and eventually damage the organs in the body.

There are over 50 different types of lysosomal storage disorders. The most common types include:

• Gaucher disease. This disorder affects the spleen and bones.
• Hunter syndrome. This disorder causes permanent, progressive damage to organs and affects appearance, mental development and physical abilities.
• Hurler syndrome. This disorder causes problems with hearing, joints and potentially the heart.
• Fabry disease. This disorder affects the heart, kidneys and skin.
• Maroteaux-Lamy syndrome. This progressive condition causes many tissues and organs to enlarge.
• Morquio syndrome. This disorder affects the development of bones, including the spine.
• Pompe disease. This disorder affects the heart, liver and muscle tissue.

Lysosomal storage disorders are inherited, meaning your child received the gene from one or both parents before birth.

The symptoms of lysosomal storage disorders vary depending on the specific disorder. They may include:

• Anemia
• Breathing difficulties
• Excessive bleeding or bruising
• Facial or other bone abnormalities
• Hyperactivity or other behavioral problems
• Intellectual and/or physical developmental delay
• Pain and stiffness in the joints
• Seizures
• Enlarged abdomen due to enlarged spleen or liver
• Vision and hearing problems

Diagnosis of Lysosomal Storage Disorders

Your child's doctor may suspect a lysosomal storage disorder if he or she sees a pattern of symptoms. Further testing of the blood, urine and tissue for enzyme deficiencies can be used to help diagnose a lysosomal disorder.

Genetic testing may also be used to help determine your risk of passing on a particular gene mutation to future children. Prenatal genetic testing, done via amniocentesis and chorionic villus sampling, can be used to help diagnose lysosomal storage disorders during pregnancy. During amniocentesis, a hollow needle is inserted into the uterus to obtain a sample of the amniotic fluid. Chorionic villus sampling involves taking a tiny tissue sample from the fetal portion of the placenta. Each of these procedures involves some potential risk to the fetus and should be discussed with both a geneticist and OB/GYN before a decision is made to pursue such testing.