Krabbe leukodystrophy, globoid cell leukodystrophy or galactosylceramide lipidosis
fatal degenerative disorder affecting the myelin sheathing of nerves.
autosomal recessive genetic disorder.
caused by mutations in the GALC gene located on chromosome 14 (14q31).
This mutation then results in a galactocerebrosidase enzyme deficiency.
The build up of unmetabolized lipids affects the growth of the nerve’s protective myelin sheath, causing severe degeneration of motor skills.
Krabbe leukodystrophy is part of a group of disorders known as leukodystrophies.
Infants are usually diagnosed between 3 and 6 months of age and do not survive past childhood. There is also a slower, adult onset version of the disease.