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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.

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Hurler Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References $32.71 Lysosomal enzyme patent expands Transkaryotic patent position. : An article from: BIOTECH Patent News $5.95
Obstructed umbilical hernia in a child with Hurler's syndrome.(Case Report) : An article from: Indian Journal of Surgery $5.95 Transkaryotic announces issuance of United States Patent covering alpha-L-iduronidase enzyme for the treatment of Hurler Syndrome.(Transkaryotic Therapies ... : An article from: BIOTECH Patent News $5.95

Infusions help babies with Hurler's syndrome
Hurler's syndrome is a rare hereditary condition caused by the lack of an enzyme needed to regulate basic cell functions. Treatments to replace the enzyme help children with the condition but don't
Hurler's Syndrome
A severe genetic disorder that causes skeletal deformity and mental retardation.
ENZYMES: Hurler Syndrome Enzyme Patented
U.S. Patent 6,149,909, entitled "Synthetic Alpha-L-Iduronidase and Genetic Sequences Encoding Same," based on work performed by John Hopwood and colleagues, ...
Early diagnosis of Hurler's syndrome with the aid of the identification of the characteristic gibbus deformity
This case study describes the clinical evaluation and diagnosis of Hurler's syndrome in a 7-month-old child who was noted to have a thoracolumbar kyphosis ...
ENZYMES: Enzyme Combats Hurler Syndrome
BioMarin Pharma. and Genzyme will jointly develope recombinant enzyme treatment
MRI and MRS of Coffin-Lowry syndrome: A case report
MRI and MRS were used to examine the brain and the spine of a Coffin-Lowry syndrome (CLS) patient. There were moderately enlarged lateral and third ventricles ...
Hurlers Syndrome Treatment Patented
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." ...
Pulmonary Complications After Bone Marrow Transplantation: An Autopsy Study From a Large Transplantation Center
Context.-Bone marrow transplantation (BMT) is used to treat various malignant and nonmalignant disorders. Pulmonary complications are some of the most ...

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