Sunday, May 15, 2011

MPS Awareneness Day - May 15th

Today, May 15th is MPS Awareness Day. The MPS's are a group of rare disorders caused by a missing or deficient enzyme and in all but 1 type of autosomal recessive (inherited by both parents who must b e carriers) With MPS type I the form which I live with the incidence rate is approx 1:160 with a 1:4 chance of being affected and 67% chance of being a carrier.

The word MPS (mucopolysaccaridoses) essentially means 'many thickened sugars' caused by GAG deposits throughout the cells, organs, joints and CNS.

Symptoms include coarsened facial features, hearing loss, corneal clouding, hydrocephalus, joint contractures and stiffness, spinal compression, kyphosis, scoliosis, cardiac abnormalities, lung issues, enlarged liver and spleen and many other symptoms and in MPS I the treatment consists of enzyme replacement infusions weekly for my form and transplant for the severe younger kids.

The gene is found on chromosome 4p16 and enzyme Alplha L Iduronidase

The inheritance rate of MPS I atteniated is estimated at 1:500,00 to 1:2million

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