Lysosomes are sacs inside cells, containing enzymes that metabolize (break down) excess sugars and lipids (fats) into substances that cells can use. When lysosomes don’t work properly, these sugars and fats build up in the cell instead of being used or excreted.
Lysosomal storage diseases are rare, but can lead to death if untreated. The excess substances built up in your child’s cells can cause a wide range of problems throughout the body, affecting organs including the:
A defective gene that develops during fetal (before birth) growth causes lysosomal storage diseases. Children can inherit the gene from one or both parents. The defective gene regulates a particular enzyme in the lysosome, which either is missing or isn’t enough to process the excess substances. When these substances build up to harmful amounts, cells stop working properly and may die.
There are more than 50 types of lysosomal storage diseases. The types that occur most often in babies and children include:
Symptoms vary depending on the type of lysosomal storage disease your child may have. One or more of these symptoms may occur:
Physicians can detect lysosomal storage diseases either during pregnancy or in newborns and young children. In addition to a physical exam, some of our diagnostic tools include:
Physicians can help relieve symptoms of some types of lysosomal storage diseases with treatment. At Children’s National, some common treatments include:
Learn more about our Blood and Marrow Transplant Program at Children’s National.
Pranoot Tanpaiboon, MD, Genetic Specialist
Marshall Summar, MD, Genetic Specialist
With more than 4,000 visits annually and 12 physicians, Children’s National is now the largest clinical genetics program in the United States.
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