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Hurler Syndrome

Introduction

Hurler syndrome (after the name of German Pediatrician Gertoud Hurler) is an inherited disorder of metabolism in which individual’s body is unable to make an enzyme alpha-L-iduronidase, responsible for metabolic breakdown of mucopolysaccharides.

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 chance of having Hurler syndrome is one in 1,15,000 births.

Classification of Disease:

• Hurler Syndrome (Severe)
• Hurler Scheie Syndrome (Intermediate)
• Scheie Syndrome (Mild)

Hurler syndrome is inherited in an autosomal recessive gene and alpha-L-iduronidase is enclosed on chromosome 4.

Symptoms of Hurler Syndrome:

The child is born with normal features and the symptoms of Hurler syndrome begins within two years of the birth.

The symptoms of Hurler Syndrome include

• Progressive mental retardation
• Enlarged liver and spleen.
• Enlarged skull
• Deformed skull
• Small stature
• Cloudy cornea
• Thick coarse facial features
• Hernia
• Valvular heart disease
• Joint problems
• Abnormal tooth
• Halted growth

The symptoms of Hurler Scheie syndrome, begins in 3-8 years of age and are similar but less severe to Hurley Syndrome.

The symptoms ofScheie syndrome include

• Joint problems
• Cloudy cornea and
• Valvular heart problem.

Diagnosis of Hurler Syndrome:

• Facial features and other medically associated problems if present; the following tests should be carried out for confirming or ruling out 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.
• Spine X ray and EKG should be performed.

Treatment:

• 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 treatment technique depends on the condition of the individual and affected organs.

Children with severe Hurler syndrome have progressive mental retardation and a short life span is expected.

Precautions:

• If you have a family history of Hurler syndrome and considering having children, consult your doctor.
• If your child develops the symptoms of Hurler syndrome, call your health care professional.
• If you are prospective parents with a family history of Hurler syndrome, you should get genetic counseling from your doctor.

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