Which are the causes of Hurler Syndrome MPS1H?

Hurler Syndrome, also known as MPS1H (Mucopolysaccharidosis type 1H), is a rare genetic disorder that affects the body's ability to break down certain complex carbohydrates called glycosaminoglycans (GAGs). This condition is caused by a mutation in the IDUA gene, which provides instructions for producing an enzyme called alpha-L-iduronidase.

The main cause of Hurler Syndrome is a genetic mutation in the IDUA gene. This gene mutation leads to a deficiency or complete absence of the alpha-L-iduronidase enzyme, which is responsible for breaking down GAGs in the body. Without this enzyme, GAGs accumulate in various tissues and organs, causing progressive damage.

Hurler Syndrome is an autosomal recessive disorder. This means that an affected individual must inherit two copies of the mutated IDUA gene, one from each parent, to develop the condition. If a person inherits only one copy of the mutated gene, they become a carrier but do not typically show symptoms of the disorder.

The IDUA gene mutation affects the lysosomes, which are compartments within cells that break down waste materials. Without functional alpha-L-iduronidase enzyme, GAGs cannot be properly broken down and eliminated from the body. Consequently, these complex carbohydrates accumulate in various tissues, leading to the characteristic symptoms of Hurler Syndrome.

The accumulation of GAGs causes progressive damage to multiple organs and systems in the body. This can result in a wide range of symptoms, including skeletal abnormalities, heart problems, respiratory issues, vision and hearing impairment, developmental delays, and cognitive decline.

It is important to note that Hurler Syndrome is a genetic disorder and is not caused by any external factors or environmental influences. The risk of having a child with Hurler Syndrome increases when both parents are carriers of the mutated IDUA gene.

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 address specific symptoms and complications.