Hurler Syndrome (MPS1H) is a hereditary condition. It is caused by a defective gene that is passed down from parents to their children. This gene mutation affects the body's ability to produce an enzyme called alpha-L-iduronidase, leading to the accumulation of certain substances in cells and tissues. As a result, individuals with Hurler Syndrome inherit the condition from their parents.
Hurler Syndrome (MPS1H) is a rare genetic disorder that belongs to a group of diseases called mucopolysaccharidoses (MPS). It is characterized by the deficiency of an enzyme called alpha-L-iduronidase, which is responsible for breaking down certain complex sugars in the body.
Yes, Hurler Syndrome is hereditary. It is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for their child to be affected. If both parents are carriers, there is a 25% chance with each pregnancy that their child will have Hurler Syndrome.
The mutated gene responsible for Hurler Syndrome is located on chromosome 4. When a child inherits two copies of the mutated gene, one from each parent, they are unable to produce enough alpha-L-iduronidase enzyme. As a result, complex sugars accumulate in various tissues and organs of the body, leading to progressive damage and dysfunction.
It is important for individuals with a family history of Hurler Syndrome or other MPS disorders to undergo genetic counseling and testing. This can help determine if they are carriers of the mutated gene and assess the risk of passing it on to their children.
Early diagnosis and intervention are crucial in managing Hurler Syndrome. Treatment options may include enzyme replacement therapy, hematopoietic stem cell transplantation, and supportive care to manage symptoms and improve quality of life.