Krabbe disease
Definition
Krabbe disease is an inherited enzyme deficiency that leads to the loss of myelin, the substance that wraps nerve cells and speeds cell communication. Most affected individuals start to show symptoms before six months of age and have progressive loss of mental and motor function. Death occurs at an average age of 13 months. Other less common forms exist with onset in later childhood or adulthood.
Description
Myelin insulates and protects the nerves in the central and peripheral nervous system. It is essential for efficient nerve cell communication (signals) and body functions such as walking, talking, coordination, and thinking. As nerves grow, myelin is constantly being built, broken down, recycled, and rebuilt. Enzymes break down, or metabolize, fats, carbohydrates, and proteins...
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