Krabbe leukodystrophy, globoid cell leukodystrophy or galactosylceramide lipidosis

 fatal degenerative disorder affecting the myelin sheathing of nerves.

etiology:

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.

Prognosis:

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.

Advertisements

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s

%d bloggers like this: