What is the life expectancy of someone with Hurler syndrome?

What is the life expectancy of someone with Hurler syndrome?

For example, individuals with the mildest form of MPS I (MPS IS) may have a reasonably normal lifespan, while those with intermediate (MPS IH/S) usually live to teen age or early adulthood. Those with severe MPS I (MPS IH or Hurler syndrome) rarely live longer than 10 years.

How many people does Hurler syndrome affect?

The prevalence of the Hurler subtype of MPS1 is estimated at 1/200,000 in Europe.

How often does Hurler’s syndrome occur?

Epidemiology. Hurler syndrome has an overall frequency of one per 100,000. Combined, all of the mucopolysaccharidoses have a frequency of approximately one in every 25,000 births in the United States.

Is Hurler syndrome life threatening?

If untreated, patients with Hurler syndrome experience progressive deterioration of the musculoskeletal, cardiorespiratory, and central nervous systems, leading to death before age 10 years[1].

Does hurler only affect men?

The incidence of Hurler syndrome is approximately 1 in 100,000 births. [1] Male and female children are equally affected. All races and ethnicities are at risk of inheriting the disease.

What is the IDUA gene?

The IDUA gene provides instructions for producing an enzyme called alpha-L-iduronidase, which is essential for the breakdown of large sugar molecules called glycosaminoglycans (GAGs).

What gene causes Hurler syndrome?

Hurler syndrome is caused by a variation in the IDUA gene, which contains the instructions for the production of a specific enzyme known as alpha-L-iduronidase. This specialized protein is normally found in the lysosomes of cells, where it helps to break down complex sugars called glycosaminoglycans (GAGs).

What gene mutation causes Hurler syndrome?

What happens in Hurler syndrome?

Hurler syndrome is an inherited condition caused by a faulty gene. Children with Hurler syndrome lack an enzyme that the body needs to digest sugar. As a result, undigested sugar molecules build up in the body, causing progressive damage to the brain, heart, and other organs.

What is Hurler Scheie syndrome?

Definition. Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.