Rare Genetic Diseases: Krabbe Disease

Krabbe disease, also known as globoid cell leukodystrophy, is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. It is inherited in an autosomal recessive pattern. The usual onset of the disease happens within the first 3 to 6 months of life. Krabbe disease affects 1:100,000 individuals.

85%-90% of the affected individuals have an early onset of the disease. They display progressive neurologic deterioration in infancy and death before the age of two. The other 10%-15% of affected individuals demonstrate symptoms later and have slower disease progression.

The characteristic symptoms include irritability, fevers, limb stiffness, seizures, feeding difficulties, and slowing of mental and motor development.

The mutation causing Krabbe disease is located in the GALC gene which is positioned on chromosome 14. The mutation causes the deficiency of an enzyme called galactosylceramidase, which removes galactose from ceramide. The build up of unmetabolized lipids adversely affects the growth of the nerve’s myelin sheath (the covering that insulates many nerves) resulting in severe degeneration of motor skills.

There is no known treatment for Krabbe disease, however, bone marrow transplantation or haematopoietic stem cell transplantation (HSCT) has been shown to benefit cases early in the course of the disease.