Lysosomal Storage Disorders are inherited diseases that impact metabolic function in patients. These conditions cause a buildup of various different toxic substances in the cells of the body, which are the result of enzyme deficiencies. There are 50 of these conditions in total, and they can affect various parts of the body. The skeleton, brain, heart, skin, and central nervous system can all be impacted by these disorders.
The symptoms of Lysosomal Storage Disorders can vary greatly depending on the kind of disorder that a patient has been diagnosed with. The storage disorder types are:
The common symptoms of these conditions can vary but might include:
These conditions are inherited. This means that parents contribute the recessive genes that are necessary to cause them to their children. These conditions cannot be developed without receiving a copy of the necessary genes from each parent.
The risk factors for developing these conditions are:
Diagnosis of Lysosomal Storage Disorders can be made while babies are still in the womb. This is done through prenatal testing like amniocentesis or chorionic villus sampling. These tests look for missing enzymes in the blood and other signs and symptoms of these conditions.
If prenatal testing is not done, blood tests, biopsies, and genetic testing after birth can be done to diagnose Lysosomal Storage Disorder. Eye exams and hearing tests, as well as organ function tests, can also be used to diagnose these conditions. X-rays, MRIs, and heart health tests like echocardiograms and EKG can also be useful in making a diagnosis.
Prevention of these conditions is not usually possible. These are genetic conditions that may or may not be transmitted to children born to parents who carry the genes that cause them. Parents can opt for genetic testing before they become pregnant and work with a specialist to find out how likely it will be that their children will inherit the genes necessary to cause Lysosomal Storage Disorders.
Treatment of these conditions can be done in a variety of ways. Many patients experience a great improvement in symptoms through enzyme replacement therapy or stem cell transplants. Substrate reduction therapy can also be used to reduce the substances that are building up in the cells and causing symptoms.
Gene therapy is still experimental, but it can replace damaged genes with healthy ones in some patients. Pharmacological Chaperone Therapy (PCT) can also be used to replace damaged enzymes and improve how lysosomes work.
Many patients will need support with NSAIDs, immunosuppressants, or things like orthopaedic braces. Physical and speech therapy might be necessary for some patients as well. Surgery and interventions that are aimed at treating specific organ functions are commonly used in treatment as well.