April 2, 2009

Ruled Out: Mannosidosis & Fucosidosis

Both Mannosidosis and Fucosidosis are autosomal recessive lysosomal storage disorders. Mannosidosis is caused by deficient activity of the enzyme alpha-D-mannosidase. While in Fucosidosis the enzyme fucosidase is not properly used in the cells to break down fucose.

The last lab pending is for Krabbe disease. We should get the result for that back within the week.

1 comment :

  1. Thanks for this useful post. Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: http://www.accessdna.com/condition/Fucosidosis/740. Thanks, AccessDNA