Hurler's+Disease

toc =Hurler's Disease= By: Kaitlin, Mary & Eddie

Hurlers Syndrome is a genetic storage disorder that happens after a deficiency of an enzyme, alpha-L iduronidase, that breaks down mucopolysaccharides in the lysomes of the body. When you don't have this enzyme, heparan sulphite and dermatan sulfate build up in the body. When one has Hurler's Syndrome, long chains of sugar molecules can not be broken down The symptoms start to appear during childhood and can cause early death because of organ failures. Hurler's disease affects mainly babies and follows until the age ten where most die of heart failure.

Molecular Basis
"Sequence analysis of the γ-subunit cDNA in patients from 3 families identified a frameshift mutation, in codon 167 of the γ subunit, that segregated with the disease, indicating MLIIIC results from mutations in the phosphotransferase γ-subunit gene. This is to our knowledge the first description of the molecular basis for a human mucolipidosis and suggests that the γ subunit functions in lysosomal hydrolase recognition." (http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=289169)

Symptoms
Symptoms in early childhood include frequent colds and and ear infections. Without therapy, a child with hurler's disease may become mentally retarded. They stop growing at the age of three. The corneas often become clouded and cause vision problems. Carpal tunnel syndrome, curvature of the spine, frequent runny noses, and hearing loss, swelling of the liver and spleen, low forehead, enlarged head, joint disease, and a claw hand are other symptoms.

Treatment
Unfortunately there is no found cure that completely abolishes the disease. However there are treatments to slow the disease from progressing. Nornally a bone marrow transplant improves some of the symptoms of the disease. Cord blood transplant procedures are also to halt the mental retardation at a young age. Many individuals aren't qualified for the procedure though because it's very high-risk. Although, a cure isn't found much research is being done to make major achievements in the advance to finding a cure.

Facts

 * Named after the German paediatrician Gertrud Hurler (1889–1965) who first described it in 1919.
 * It is inherited through genetics
 * 1 in 100,000 people are diagnosed with the disease.
 * Children who have hurler's usually stop growing at the age of three
 * It has the features of progressivee deterioration, dwarfsim, and gargoyle-like faces

To meet someone dealing with hurler's syndrome, visit [|Kallie's Story].

To watch a video about parents dealing with their child's diagnosis, visit [|Patient Stories] and click on Haley's story.


 * [[image:http://www.academic.marist.edu/~jzmz/topics/bloodsmears/bloodsmears26.jpg width="283" height="206"]] ||

For More Information Visit: [|National MPS Society]