Hurler syndrome natural cures

Hurler syndrome Definition

Hurler syndrome, also called mucopolysaccharidosis type I (MPS I), Hurler's disease and gargoylism, is a genetic disorder that results in the deficiency of alpha-L iduronidase, which is an enzyme that breaks down mucopolysaccharides in the lysosomes. In the absence of this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can take place due to organ damage.

Hurler syndrome Diagnosis

Diagnosis can often 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 utilized to provide definitive diagnosis of one of the mucopolysaccharidoses.

Hurler syndrome Treatment

Enzyme replacement therapies are currently in use, BioMarin Pharmaceutical provides therapeutics for mucopolysaccaradosis type I (MPS I), by manufacturing laronidase, popularized by Genzyme. Enzyme replacement therapy has proven effective in reducing non-neurological symptoms and pain.

Hurler syndrome Symptoms and Signs

The condition is characterized by progressive deterioration, hepatosplenomegaly, dwarfism and gargoyle-like faces. There is a progressive mental retardation, with death most often occurring by the age of 10 years. Affected children may be quite big at birth and appear normal but may have inguinal or umbilical (where the umbilical cord passes through the abdomen) hernias. Growth in height may be faster than normal at first, then 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 not more than 4 feet. Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more obvious in the second year. Children may suffer from noisy breathing and recurring upper respiratory tract and ear infections. Feeding may be difficult for some children, and many suffer from periodic bowel problems.


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