Hurler Syndrome

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Information of Hurler Syndrome

Hurler syndrome is named after the reknown German Pediatrician, Dr. Gertoud Hurler. It is an inherited genetic disorder of metabolism in which individual's body is unable to make an enzyme alpha-L-iduronidase, responsible for metabolic breakdown of mucopolysaccharides.

These mucopolysaccharide is found in body tissues, and in absence of enzyme alpha-L-iduronidase, mucopolysaccharides accumulates in the body, causing mild to severe damages to many important organs including heart.

The infants and children suffering from Hurler Syndrome generally die before reaching adolescence.

Cause of Hurler Syndrome

Autosomal recessive affecting mucopolysaccharide storage.

Symptom of Hurler Syndrome

• Grotesque features;
• Protuberant abdomen;
• Hepatosplenomegaly;
• Associated cardiac abnormalities

Diagnosis of Hurler Syndrome

• Urine testing should be carried out for the presence of mucopolysaccharidunia and if present, further test to confirm specific enzyme responsible for Hurler syndrome should be performed.
• Blood test to confirm alpha-L-iduronidase should be carried out.
• Facial features and other medically associated problems if present; the following tests should be carried out for confirming or ruling out Hurler syndrome.
• Spine X ray and EKG should be performed.

Treatment of Hurler Syndrome

There are not many treatment options avaliable for Hurler Syndrome lately. But during recent technological advancement, there are quite a few options. The treatment technique depends on the condition of the individual and affected organs. Bone marrow transplant is able to improve the symptoms and was successfully carried out first time in the year 1981. Bone marrow transplant should be performed at the very beginning to prevent mental retardation. Bone marrow transplant is carried out after total body radiation therapy, and is very effective treatment of Hurler syndrome, except the bone and eye disease.

A new technique, umbilical cord is in use for transplants. In this technique, stem cells provided by donor is transplanted and is as effective as bone marrow transplant and further this technique does not require total radiation before transplant. The third technique enzyme replacement is also in place. The children with severe Hurler syndrome have progressive mental retardation and a short life span is expected.

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