Krabbé

Krabbé is a rare, inherited metabolic disorder that primarily affects the nervous system. It is caused by a deficiency of the enzyme galactocerebrosidase, which is responsible for breaking down certain fats called galactolipids. When this enzyme is deficient, these fats build up in the cells of the brain and other tissues, damaging them.

The symptoms of Krabbé disease can vary widely depending on the age of onset. The most common form is infantile Krabbé, which typically appears within the first few months of life. Infants with this form may experience irritability, feeding difficulties, vomiting, fever, developmental delays, and muscle weakness. As the disease progresses, seizures, spasticity, and vision loss can occur. Without treatment, infantile Krabbé is usually fatal within the first two years of life.

Less common forms of Krabbé disease include juvenile and adult-onset forms. These typically have a slower progression of symptoms, which may include tremor, incoordination, cognitive decline, and behavioral changes.

Diagnosis of Krabbé disease is usually made through a blood test that measures the activity of galactocerebrosidase. Genetic testing can also confirm the diagnosis. Currently, there is no cure for Krabbé disease. Treatment focuses on managing symptoms and providing supportive care. Hematopoietic stem cell transplantation (HSCT) has shown some promise in slowing the progression of the disease if performed very early, before significant neurological damage has occurred. Ongoing research is exploring gene therapy and other novel treatment approaches.