What is Hurler Syndrome?

Hurler Syndrone, which is also known as (MPS I), or Hurler's disease can be described according to Wikipedia as a genetic disorder, which causes the buildup of mucopolysaccharides, which is caused by a deficiency of an enzyme. Without this enzyme, symptoms can start to appear in childhood and death can occur due to damage to the organs.

(MPS I) has been divided into three other subtypes, which is based on the severity of the symptoms. All three types are a result from an absence or insufficient levels of the enzyme α-L-iduronidase. Hurler syndrome or (MPS I H), is the most severe out of the MPS I subtypes. The other two types are MPS I S and MPS I H-S.

Hurler syndrome is referred to as a lysosomal storage disease, and is related to Hunter Syndrome. Hurler Syndrome can occur in 1 out of 100,000 people, and 1 out of 25,000 births. Hurler Syndrome can be considered a genetic disease and can be inherited.

Hurler Syndrome can cause features on the patient, such as dwarfism or a gargoyle like face. Mental retardation occurs and it is progressive, and death occurs mostly before the age of ten. Hurler Syndrome can cause a delay in development by the end of the first year. There after, patients stop developing between the ages of 2-4. During this stage, metal decline progresses and there may be a loss of motory skills. Hearing loss and an enlarged tongue can also occur and contribute to loss of speech. Hurler Syndrome also can deteriorate and affect the eyes, a child's stature, and enlarge organs. Other commons symptoms of Hurlers Syndrome can be facial distortions, respiratory infections, bowel issues and cardiac complications.

How to be diagnosed with Hurlers Syndrome is either by clinical exam or urine screening to look for the enzyme that is associated with this disease. Prenatal exams are effective in verifying whether the child may have this defective gene. If there is a family history of Hurlers Syndrome, genetic counseling may assist parents in determining is they are carrying this gene.

Treatment is still undergoing, there have been various clinical trials on animals but have not yet made it to human trials as of yet. Early detection is the best diagnosis for you and your child. If you have any concerns that Hurler Syndrome may play a part in your family history seek counseling immediately for additional information.

James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0. / http://en.wikipedia.org/wiki/Hurler_Syndrome/ Wikipedia

G. Hurler. Über einen Typ multipler Abartungen, vorwiegend am Skelettsystem. Zeitschrift für Kinderheilkunde, Berlin, 1919, 24: 220-234/ http://en.wikipedia.org/wiki/Hurler_Syndrome/ Wikipedia