Infantile Globoid Cell Leukodystrophy (IGCL), also known as Krabbe disease, is a rare and progressive genetic disorder that primarily affects the nervous system. It is classified as a leukodystrophy, a group of disorders characterized by the deterioration of the white matter of the brain.
IGCL is caused by a mutation in the GALC gene, leading to a deficiency of an enzyme called galactosylceramidase. This enzyme is responsible for breaking down a fatty substance called galactosylceramide, which is essential for the formation and maintenance of myelin, a protective covering around nerve fibers. In the absence of this enzyme, galactosylceramide accumulates, leading to the destruction of myelin and subsequent damage to the nervous system.
Typically, symptoms of IGCL appear within the first few months of life and progress rapidly. Affected infants may display irritability, muscle weakness, poor feeding, and delayed developmental milestones. As the disease advances, other symptoms such as vision loss, seizures, loss of motor skills, and intellectual disabilities become evident. IGCL can significantly shorten life expectancy, with most affected infants not surviving beyond their second year.
Currently, no cure exists for IGCL, and treatment methods primarily focus on managing symptoms and improving quality of life. Supportive measures such as physical and occupational therapy, medication to control seizures, and nutritional support are commonly employed. In recent years, hematopoietic stem cell transplantation has shown some promise in slowing disease progression if performed early in the course of the disease.
The prognosis for infants with IGCL remains generally poor, highlighting the importance of early detection through newborn screening programs to allow timely interventions.
