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Hurler Syndrome: Symptoms, Cause and Treatment


What is Hurler Syndrome?

Hurler Syndrome is a hereditary disease which is associated with mucopolysaccharidoses caused by the deficiency of an enzyme and characterized by mental retardation, clouding of the cornea and sensorineural deafness.

Causes of Hurler Syndrome

Firstly it is a hereditary problem as an autosomal recessive trait and it is also occur due to the inability of the body to create, an enzyme which breakdown mucopolysaccharides. Because of enzyme deficiency mucopolysaccharidoses develops in the body and which may cause to some severe symptoms. Growth of large mucopolysaccharides may caused to Hurler Syndrome.

Symptoms of Hurler Syndrome

  • Terminated growth
  • Mental retardation
  • Heart defects
  • Stiffness and joint problem
  • Deafness
  • Umbilical and inguinal hernias
  • Umbilical and inguinal hernia
  • Facial features and deformed skull
  • Often chest infection
  • Corneal opacities
  • Small stature

Treatment of Hurler Syndrome

The cure is not suggested for hurler syndrome. It can treat by enzyme replacement therapy with laronidase which is beneficial for walking ability and pulmonary function etc.

Surgical treatment is required for joint contractures or deformities in foot and hand. Corneal transplants is needed when visual problem is severe. Marrow transplant is very essential treatment for this disease in physical respect but it is not used for bone and eye. Umbilical cord blood is new which is used for transplants in this disease.

 

Disclaimer: This site is for educational purposes only. The information provided should not be used for diagnosing or treating a health problem or disease. If you have, or suspect you have a health problem, you should consult your health care provider.