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.