Krabbe disease
Krabbe disease is a rare genetic disorder that affects the nervous system. It is caused by a deficiency of the enzyme galactocerebrosidase, which is essential for breaking down certain fats in the body. This leads to the accumulation of toxic substances in the brain and nervous system, resulting in severe neurological symptoms.
Symptoms of Krabbe disease typically appear in infancy and may include irritability, developmental delays, and loss of motor skills. As the disease progresses, it can lead to more serious complications, including seizures and loss of vision. Early diagnosis and intervention are crucial for managing the condition.