There was Peg Barney sittin' on the groun' in his shirt-wan shoe off an' wan shoe on-whackin' a tent-peg over the head wid his boot, an' singin' fit to wake the dead.
What Your Test Results Mean: Carriers typically show no symptoms of Hurler syndrome; however, carriers are at an increased risk of having a child with Hurler syndrome. Risk for current or future pregnancies is dependent on your partnerâs carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor. Disease Explained: Hurler syndrome is an inherited lysosomal storage disorder in which glycosaminoglyans (sugar molecules) accumulate in the body and can damage organs. Individuals with Hurler syndrome do not make enough of the lysosomal enzyme alpha-L-iduronidase.
Marfan syndrome is a genetic disorder that affects the bodyâs connective tissue. Connective tissue holds all the bodyâs cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-Î².