Globoid Cell Leukodystrophy (Krabbe Disease)
Krabbe Disease, or Globoid Cell Leukodystrophy, is caused by an almost complete deficiency of galactosylceramide B-galactosidase activity. It is a rare degenerative disorder of the central and peripheral nervous systems.
The onset of symptoms is usually between the ages of 3 and 6 months, after which infants rapidly deteriorate, losing previously attained developmental skills. The children come down with unexplained fevers, irritability, myoclonic seizures, blindness, spasticity, and paralysis. Usually Krabbes is fatal before the age of 2 years.
Later onset Krabbe Disease exists and occurs in late infancy (6-18 months), the sub-teens, adolescence, or adulthood. There is involvement of the motor system, with spasticity, as well as changes in vision and the thinking processes.
Globoid Cell Leukodystrophy follows an autosomal recessive pattern of inheritance and affects males and females equally. The enzyme that must be investigated is B-galactocerebrosidase, rather than galactosidase, which is a marker for a different disorder. Diagnosis may be missed, particularly in older patients.
Bone marrow transplant has been performed in a limited number of patients with encouraging results in some of the more mildly involved, older patients.
Further information can be obtained from:
Globoid Cell Leukodystrophy (Krabbe Disease) [external]