Learn About Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome)

View Main Condition: Mucopolysaccharidoses (MPS)

What is the definition of Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome)?

Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types.

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What are the causes of Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome)?

Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the GAGs may also interfere with the functions of other proteins inside the lysosomes and disrupt the movement of molecules inside the cell.

How prevalent is Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome)?

Severe MPS I occurs in approximately 1 in 100,000 newborns. Attenuated MPS I is less common and occurs in about 1 in 500,000 newborns.

Is Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome) an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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What are the latest Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome) Clinical Trials?
An Extension Study of JR-171-101 Study in Patients With Mucopolysaccharidosis Type I

Summary: Phase I/II, open label, multicenter, multinational (Japan, Brazil and the US) extension study of JR-171-101 for the treatment of MPS I

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Evaluation of Intravenous Laronidase Pharmacokinetics Before and After Hematopoietic Cell Transplantation in Patients With Mucopolysaccharidosis Type IH.

Summary: This is a prospective, observational multicenter study to collect blood from patients with mucopolysaccharidosis type IH undergoing laronidase therapy and a stem cell transplant. Sixteen patients will be enrolled over a 24 month period.

Who are the sources who wrote this article ?

Published Date: December 01, 2012Published By: National Institutes of Health

What are the Latest Advances for Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome)?
Damage of the cardiovascular system in lysosomal storage disease - mucopolysaccharidosis.
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
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Functional results after carpal tunnel release in mucopolysaccharidosis.