What is MPS1 Hurler syndrome?

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

What is MPS life expectancy?

The life expectancy of these individuals is 10 to 20 years. Individuals with mild MPS II also have a shortened lifespan, but they typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.

How is Hurler syndrome caused?

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 the cause of mucopolysaccharidosis?

The disorder is caused by deficiency of the enzyme beta-glucuronidase. In its rarest form, MPS VII causes children to be born with hydrops fetalis, in which extreme amounts of fluid are retained in the body. Survival in these cases is usually a few months or less.

Can Hurler syndrome be prevented?

There is no cure but treatments such as bone marrow transplantation and/or enzyme replacement therapy (ERT) can help make MPS I a more manageable disease.

Is Hurler syndrome curable?

There is no cure for MPS I, and it is difficult to manage (treat). A team approach often is used that includes medical therapy with laronidase (Aldurazyme) and possibly surgery to help reduce some of the symptoms of this inherited disease.

Is MPS fatal?

In the most severe cases of MPS I, death usually occurs by age 10 although some patients may have a normal life span. Clinical symptoms are heterogeneous and are progressively limiting in nature. A few examples of disease progression include: Cardiovascular disease is common in patients with MPS I.

What illness is MPS?

Mucopolysaccharidosis type I (MPS I) is a rare disease in which the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules. These chains of molecules are called glycosaminoglycans (formerly called mucopolysaccharides).

Is Hurler syndrome fatal?

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].

Is MPS inherited?

Mucopolysaccharidosis type I (MPS I) is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell . Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier .

Is there a cure for MPS?

Although there is no cure for MPS I, bone marrow transplant and enzyme replacement therapy are treatment options that may help manage the symptoms of this condition.

What is the life expectancy of someone with Hunter syndrome?

No cure is available for Hunter syndrome. The most severe cases can be life-threatening, with life expectancy typically between 10 and 20 years. People with mild cases of the disease typically live longer into adulthood.

What kind of disease is Hurler Scheie syndrome?

Hurler-Scheie syndrome is classified as a lysosomal storage disease. Patients with Hurler-Scheie syndrome lack the ability to break down GAGs in their lysosomes due a deficiency of the enzyme iduronidase . All forms of mucopolysaccharidosis type I (MPS I) are a spectrum of the same disease.

Which is the most severe form of MPS1?

Summary. Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

Which is the most severe form of Hurler syndrome?

How is Hurler syndrome related to Hunter syndrome?

Hurler syndrome is classified as a lysosomal storage disease. It is clinically related to Hunter syndrome (MPS II); however, Hunter syndrome is X-linked, while Hurler syndrome is autosomal recessive.