Krabbe's disease
Last reviewed 01/2018
Krabbe's disease is an autosomal recessive disease caused by a deficiency of galactocerebroside B galactosidase which results in an accumulation of galactocerebroside.
The patient presents in the first 6 months of life with:
- rigidity
- instability
- decreased alertness
Later, the child becomes blind and deaf.
The disease is fatal within a year.