Globoid Cell Leukodystrophies, also known as Krabbe disease, are a group of rare genetic disorders that affect the central nervous system (CNS) and are characterized by the gradual destruction of myelin, the protective covering of nerve fibers in the brain and spinal cord. This condition is caused by mutations in the GALC gene, which leads to a deficiency or dysfunction of an enzyme called galactocerebrosidase, resulting in the accumulation of a substance called galactosylceramide.
The buildup of galactosylceramide primarily affects the white matter of the brain, responsible for transmitting signals between different areas. As a consequence, the myelin sheath is progressively destroyed, leading to a wide range of symptoms and complications. These may include muscle weakness and stiffness, decreased muscle tone, impaired motor skills, difficulty in swallowing and speaking, vision problems, hearing loss, seizures, and cognitive decline. Symptoms typically appear in infancy or early childhood and worsen rapidly over time.
Globoid Cell Leukodystrophies are inherited in an autosomal recessive pattern, meaning that both parents must carry a mutated GALC gene to pass on the disease to their child. Early diagnosis through genetic testing is crucial for prompt intervention and management, as there is currently no cure for the condition. Treatment options focus on alleviating symptoms and supportive care, such as physical and occupational therapy, medications to manage seizures or pain, and palliative care to improve quality of life. In some cases, hematopoietic stem cell transplantation may be considered to slow down disease progression.
