| INFORMATION ON HURLER SYNDROME |
| Hurler Syndrome is a sex-linked genetic disorder that effects the chromosome 4XD164-173. It is a fairly rare disorder that effects about 1 out of every 30000 children in North America. It effects the metabolism of the victim, not creating the enzyme to break down the larger polysaccharides. This enzyme deficiency is of the enyzyme Alpha-L-Iduronidase. This defect is apparent within the first year of birth, as the child will develope seemingly normal characteristics for the first few months of life, but then will show signs of the disorder. The afflicted will be tested in a few ways, such as a carrier test using 4-mtheylumbellferyl-alpha-iduronate or a prenatal test of GAGS in amniotic fluid. Some signs of the disorder are very subtle, such as the lack of the enzyme in the metabolic works. Some are very apparent, such as the undeveloped fingers and toes. The face will eventually take on the look of a gargoyl, an effect known as gargoylism. The afflicted will be shorter than most of his age. One of the most obvious signs is mental retardation of the patient. |