Hurler Syndrome: Causes, Symptoms, Treatment

Definition

Hurler Syndrome

Hurler syndrome is a form of rare and inherited disease involving a person's metabolism. The syndrome affects a person's metabolism so that it cannot break down long chains of sugar molecules called 'glycosaminoglycans,' formerly referred to as 'mucopolysaccharides.' Hurler syndrome belongs to a group of diseases called 'mucopolysaccharidoses,' or MPS. Other forms of the disorder include MPS II, III, IV, and MPS IS or 'Scheie syndrome.'

Main Digest

Hurler syndrome is a form of an inherited syndrome. This means a person's parents must pass the disease on to their children. A person's parents must pass down the faulty gene for the syndrome for their child to develop Hurler syndrome. The most severe form of Hurler syndrome is categorized as MPS I or MPS I H.

The U.S. Social Security Administration (SSA) has included Hurler Syndrome Type IH as a Compassionate Allowance to expedite a disability claim.

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Causes of Hurler Syndrome

People affected by Hurler syndrome cannot produce a substance called 'lysosomal alpha-L-iduronidase.' The substance is an enzyme that assists in breaking down long chains of sugar molecules called glycosaminoglycans. These sugar molecules are located throughout the body, often in the person's mucus and the fluid around the person's joints. Without the lysosomal alpha-L-iduronidase enzyme, glucosaminoglycans build up in the affected person's system and cause damage to their organs, including their heart. The symptoms the person experiences may range anywhere from mild to severe.

Symptoms of Hurler Syndrome

The symptoms associated with Hurler syndrome often appear in persons affected between the ages of three and eight. Infants affected with severe Hurler syndrome present as average at the time of their birth. The facial symptoms might become more noticeable during the first two years of the affected person's life. The symptoms of Hurler syndrome can include the following:

• Deafness
• Claw hand
• Halted growth
• Cloudy corneas
• Heart value problems
• Abnormal bones in the spine
• Joint disease, including stiffness
• Mental retardation that gets worse over time
• Thick, coarse facial features with low nasal bridge

Diagnosing

A diagnosis of Hurler syndrome can be achieved using the following exams and tests.

Doctors may use an EKG, genetic testing for the alpha-L-iduronidase gene, or urine tests for extra mucopolysaccharides.

A radiologist may take X-rays of the affected person's spine for additional confirmation by a doctor with Hurler syndrome.

Treatment

Treatment of Hurler syndrome can involve enzyme replacement therapy. Enzyme replacement therapy adds a working form of the missing lysosomal alpha-L-iduronidase enzyme to the person with Hurler syndrome's body.

Another form of treatment option may include bone marrow transplantation. Bone marrow transplant has been used in several people with Hurler syndrome. Using bone marrow transplants has had mixed results in persons with Hurler syndrome.

Other forms of treatment may be ordered by a doctor or applied depending upon the particular organ affected by the syndrome.

Author Credentials:

Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses earning a Masters, Bachelors and two Associate degrees, as well as pursing Disability Studies. As a Nursing Assistant Thomas has assisted people from a variety of racial, religious, gender, class, and age groups by providing care for people with all forms of disabilities from Multiple Sclerosis to Parkinson's; para and quadriplegia to Spina Bifida.

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