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).
What are mucopolysaccharidosis?
Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body).
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.
How is mucopolysaccharidosis treated?
The two main treatment options for MPS I include hematopoietic stem cell transplant (HSCT) and enzyme replacement therapy (ERT). Both of these treatments work by replacing the missing IDUA enzyme (alpha-L-iduronidase).
Is mucopolysaccharidosis a genetic disorder?
Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder that affects many parts of the body (multisystem).
What is MPS Type 2?
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.
What is mps1?
Mucopolysaccharidosis I (MPS I) is a rare genetic disorder that affects many body systems and that leads to organ damage. It is caused by an alteration in the gene that makes an enzyme called alpha-L-iduronidase. Because of this alteration, cells either produce the enzyme in low amounts or cannot produce it at all.
Where does Mucopolysaccharide come from?
Mucopolysaccharides are long chains of sugar molecules that are found throughout the body, often in mucus and in fluid around the joints. They are more commonly called glycosaminoglycans.
How is MPS II inherited?
MPS II is inherited in an X-linked recessive pattern, which means that this conditions occurs almost exclusively in males. Females are generally unaffected carriers of this condition. In a family with more than one affected individual, the mother of the affected males must be a carrier.
How many people have MPS II?
MPS II typically affects only males, with symptoms becoming apparent at approximately 2-4 years of age. The disorder occurs in approximately 1 in 100,000 to 1 in 170,000 male births. A few affected females have been described, due to the selective inactivation of the X chromosome inherited by the father.
What is icell?
I-cell disease (mucolipidosis II) is a rare inherited metabolic disorder characterized by coarse facial features, skeletal abnormalities and mental retardation. The symptoms of I-cell disease are similar to but more severe than those of Hurler syndrome.
What is mucopolysaccharidosis type I?
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.
Can mucopolysaccharidoses be passed on to children?
The parents and siblings of an affected child may have no sign of the disorder. Unaffected siblings and select relatives of a child with one of the mucopolysaccharidoses may carry one copy of the defective gene and could pass it on to their own children. (The one exception is MPS II, or Hunter syndrome, which is an X-linked recessive disorder.
Is there a global registry for monitoring patients with mucopolysaccharidosis type I?
The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. Mol Genet Metab. 2007 May;91 (1):37-47. Epub 2007 Mar 2. Citation on PubMed
What is the pathophysiology of MPS I?
MPS I is a genetic condition. Babies inherit it from their biological (birth) parents. To learn more about genetic conditions, visit MedlinePlus Genetics. MPS I is an autosomal recessive condition. Babies inherit the condition when each parent passes down a nonworking IDUA gene to their baby.
