Pfaundler-Hurler syndrome

Pfaundler-Hurler syndrome

Description, Causes and Risk Factors:

Alternative Name: Alpha-L-iduronate deficiency, Hurler syndrome, lipochondrodystrophy, type IH mucopolysaccharidosis, MPS I.

Mucopolysaccharidoses (MPS) are a group of progressive hereditary disorders of connective tissue metabolism in which lysosomal enzyme deficiency leads to intralysosomal deposition of mucopolysaccharides or glycosaminoglycans in the airway, cornea, brain, heart, liver, spleen, bones, ligaments, blood vessels, skin producing various symptoms. Seven different Types of mucopolysaccharidosis have been identified so far and categorized into syndromes according to both the clinical features and demonstrated enzyme deficiencies.

Pfaundler-Hurler syndrome occurs in about one of every 100,000 babies born.

Pfaundler-Hurler syndrome is one of the seven MPS disorder. Children with Pfaundler-Hurler syndrome are born without an enzyme called alpha-L-iduronidase. This enzyme's sole purpose is to break down glycosaminoglycans in the body. Because the absence of alpha-L-iduronidase (IDUA), the sugars (glycosaminoglycans GAGs) accumulate in the body around the heart, brain, vital organs, bones, and muscles. This increased accumulation, in time, leaves the child with various physical and neurological disabilities as well as severe mental impairment, loss of hearing, and potential blindness.

Pfaundler-Hurler syndrome is inherited in an autosomal recessive pattern. A child inherits the syndrome when he or she gets two abnormal genes that affect the IDUA enzyme, one from each parent. If only one parent passes on the gene mutation, the child will not have the disease. Instead, the child will be a "carrier" and may pass the gene mutation to his or her own children.

Current approaches to Pfaundler-Hurler syndrome include genetic counseling for parents who are carriers of the disease, and improvements in early detection of the disease in unborn children.


Symptoms of Pfaundler-Hurler syndrome most often appear between ages 3 and 8.

General symptoms include:

    Short stature.

  • Coarse facies.

  • Enlarged tongue.

  • Enlarged skull.

  • Skeletal defects.

  • Corneal clouding.

  • Hearing impairment.

  • Mental retardation.

  • Inguinal hernias.

  • Joint stiffness and skeletal deformities

  • Coronary heart disease.

  • Hepatosplenomegaly.


Exams and Tests:

    Electrocardiogram (EKG).

  • Genetic testing for the alpha-L-iduronidase gene.

  • Urine tests for extra mucopolysaccharides.

  • X-ray of the spine.

Families affected by Pfaundler-Hurler syndrome may want to talk with a genetic counselor about family planning and the chances of having children with the disorder.


Because Pfaundler-Hurler syndrome is genetic, it is difficult to cure. The goal of treatment is to give the body the missing enzyme so it can break down GAGs. The two main treatments for children with Pfaundler-Hurler syndrome are enzyme replacement therapy (ERT) and a bone marrow or cord blood transplant.

In ERT, a patient is given a drug that has the IDUA enzyme his or her body is missing. Enzyme replacement therapy may be a good option for children who have a form of MPS I disorder that does not cause mental retardation.

A bone marrow or cord blood transplant (BMT) is the only known treatment that can stop the progression of mental damage caused by this disease.

A transplant is an intense treatment, and some possible side effects include:

    Graft-versus-host disease (GVHD).

  • Graft failure.

  • Bleeding in the lungs (pulmonary hemorrhage).

Disclaimer:The above information is general information (informational purpose only, sometimes may not be accurate). The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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