Krabbe disease is a rare and fatal genetic disease. It affects the insulating surface that covers the nerve fibers, myelin, causing serious neurological damage. The most common form (about 90% of cases) occurs within 6 months of age and leads to death within 3 years.
There is also a less common form, which occurs in adolescence or even adulthood. The symptoms manifest themselves progressively. Children are irritable and hypersensitive to sounds. They begin to suffer from recurrent fevers even without infections, accompanied by vomiting and weight loss.
The little ones stop developing, become rigid and begin to regress. As the disease progresses, they lose the ability to move voluntarily. In the last stages they become blind and deaf. Krabbe disease is thought to be linked to alterations in the GALC gene, which encodes the enzyme galactocerebrosidase.
When the enzyme is missing, some substances toxic to the cells start to accumulate in the brain. As they accumulate, myelin deteriorates and causes all the symptoms seen above. Unfortunately, the mechanism is not yet completely clear.
The disease is transmitted in an autosomal recessive manner: both parents must be healthy carriers, so that it manifests itself. Diagnosis is made through clinical observations and instrumental investigations, such as MRI. To confirm it, enzymatic and DNA tests are used. If a couple had already had a child with the disease, they can use prenatal diagnosis.