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Hurler syndrome

Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I) or "Hurler's disease", is a genetic disorder that results in the deficiency of alpha-L iduronidate, which is an enzyme that breaks down mucopolysaccharides. Without this enzyme, the buildup of heparan sulfate and dermatan sulfate occurs in the body (the heart, liver, brain etc.). Symptoms appear during childhood and early death can occur due to organ damage. more...

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MPS I is divided into three subtypes based on severity of symptoms. All three types result from an absence of, or insufficient levels of, the enzyme alpha-L-iduronidase. Children born to an MPS I parent carry the defective gene. MPS I H or Hurler syndrome is the most severe of the MPS I subtypes. The other two types are MPS I S or Scheie syndrome and MPS I H-S or Hurler-Scheie syndrome

Features

The condition is marked by progressive deterioration, hepatosplenomegaly, dwarfism, gargoyle-like facies. There is a progressive mental retardation, with death occuring by the age of 10 years.

Developmental delay is evident by the end of the first year, and patients usually stop developing between ages 2 and 4. This is followed by progressive mental decline and loss of physical skills. Language may be limited due to hearing loss and an enlarged tongue. In time, the clear layers of the cornea become clouded and retinas may begin to degenerate. Carpal tunnel syndrome (or similar compression of nerves elsewhere in the body) and restricted joint movement are common.

Affected children may be quite large at birth and appear normal but may have inguinal (in the groin) or umbilical (where the umbilical cord passes through the abdomen) hernias. Growth in height may be faster than normal but begins to slow before the end of the first year and often ends around age 3. Many children develop a short body trunk and a maximum stature of less than 4 feet. Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year. By age 2, the ribs have widened and are oar-shaped. The liver, spleen and heart are often enlarged. Children may experience noisy breathing and recurring upper respiratory tract and ear infections. Feeding may be difficult for some children, and many experience periodic bowel problems. Children with Hurler syndrome often die before age 10 from obstructive airway disease, respiratory infections, or cardiac complications.

There is some clinical similarity with Hunter syndrome.

Diagnosis

Diagnosis often can be made through clinical examination and urine tests (excess mucopolysaccharides are excreted in the urine). Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency) are also used to provide definitive diagnosis of one of the mucopolysaccharidoses. Prenatal diagnosis using amniocentesis and chorionic villus sampling can verify if a fetus either carries a copy of the defective gene or is affected with the disorder. Genetic counseling can help parents who have a family history of the mucopolysaccharidoses determine if they are carrying the mutated gene that causes the disorders.

Read more at Wikipedia.org


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Hurlers Syndrome Treatment Patented
From Applied Genetics News, 6/1/01

The U.S. Patent and Trademark Office has issued U.S. Patent No. 6,238,662 entitled, "Synthetic Alpha-L-Iduronidase and Genetic Sequences Encoding Same." The patent claims are related to methods of treating Hurler syndrome, also know as mucopolysaccharidosis I (MPS I) using the purified alpha-L-iduronidase made from cells transfected with DNA encoding the protein. The patent, based on work performed by John Hopwood and colleagues who cloned the gene and cDNA for alpha-L-iduronidase and characterized the protein, was issued to Women's and Children's Hospital in North Adelaide, Australia and licensed to Transkaryotic Therapies (TKT), Inc. (9195 Albany St., Cambridge, MA 02139; Tel: 617/349-0200, Fax: 617/ 491-7903).

MPS I is a rare, inherited genetic lysosomal storage disorder caused by deficient activity of the protein alpha-L-iduronidase. Alpha-L-iduronidase I helps break down mucopolysaccharides. In patients affected by MPS I, mucopolysaccharides accumulate in organs and tissues of the body, particularly in the central nervous system, liver, spleen, heart, and skeleton ultimately lending to cell death and progressive tissue and organ damage. It is estimated that 1 in 25,000 births will result in some form of MPS in the United States.

"TKT intends to develop and commercialize a pipeline of products focused on rare genetic diseases including Fabry disease, Gaucher disease, Hunter syndrome, and Hurler syndrome," says Richard F Selden, president and CEO of TKT. "These are important patient populations that often get overlooked despite the fact that there is a great need for treatments, and we intend to be on the forefront of this research."

COPYRIGHT 2001 Business Communications Company, Inc.
COPYRIGHT 2001 Gale Group

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