Globoid Cell Leukodystrophy; GALC deficiency; Galactocerebrosidase or Galactosylceramidase deficiency
Inheritance from both parents will result in the disease
Age range at onset:
Any (infantile form most severe)
Specialists you may see:
This is a severe form of Lysosomal storage disorder that results in progressive damage to the nervous system.
The infantile form of Krabbe Disease is the most common and most severe; symptoms are irritability, feeding difficulties, stiff posture, hypotonia and episodes of fever with no sign of infection. Vision and hearing loss and seizures follow, and mental and physical development is delayed. Progressive muscle weakness makes moving, chewing, swallowing and breathing increasingly difficult, and those affected rarely live past the age of 2.
Late-onset forms can begin anytime from childhood to adulthood. Symptoms can vary but commonly begin with walking difficulties and vision loss. Other symptoms can include seizures and intellectual regression. Those with late-onset Krabbe disease can survive for many years with the condition.
Although there is no known cure for Krabbe disease, haemopoietin stem cell transplant has been shown to benefit cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation. Cord blood transplants from unrelated donors have been successful in stopping the disease as long as they are given before overt symptoms appear.
Krabbe disease is caused by mutations of the GALC gene. This gene creates an enzyme to break down fats called galactolipids. In absence of this enzymes, these fats cannot be broken down, and they accumulate and form globoid cells (large cells which usually have more than one nu-cleus). This causes damage to the cells which create myelin, reducing the ability of nerves to transmit signals around the body and leading to the symptoms of Krabbe disease.