Hurler syndrome is an inherited disease of children, where the child’s metabolism is affected. The metabolic system is incapable of breaking down glycosaminoglycans (long chains of sugar molecules) or mucopolysaccarides.
Though, it is a rare form of disease, but this condition occurs due to neuronal system problem that develops a poor outlook in an affected child and the child may die at younger age. Hurler syndrome is one of the diseases from mucopolysaccaridoses (MPS) group, which comes in various forms ranging from MPS II to MPS IV, MPS HIS (Hurler Scheie syndrome) and Scheie syndrome or MPS IS.
Important Causes Of Hurler Syndrome
Individuals suffering from Hurler syndrome are not able to make an enzyme known as lysosomal alpha –L- iduronidase that helps in breakdown of mucopolysaccarides. These molecules of mucopolysaccarides are abundantly present throughout the body, majorily in fluid surrounding the joints and mucus tissues.
Due to lack of digestion of glycosaminoglycans, these molecules get accumulated within the body, causing damage to organs including heart. The symptoms may range from being mild to severe. Since, the disease is inherited, it meant parents have been carrying the gene and have passed on to their children. Both parents, when pass one faulty gene to the offspring, then the child may develop Hurler syndrome. It occurs at the rate of one in 100,000 individuals and may occur in any ethnicity or race of humans.
How To Make Out If It Is A Hurler Syndrome?
The disease Hurler syndrome occurs mostly between the young ages of 3 to 8 years. It is not diagnosed or detectable at time of birth as the baby appears absolutely normal, at birth time. Only during the first two years, usually around 9 months time, the damage of Hurler syndrome may start showing, as actual symptomatic form appears with facial changes becoming noticeable.
The symptoms include deafness, claw hand, heart valve troubles, cloudy corneas, stiffness in joint mobility, spinal abnormalities, misshapen bones, airway blockage, enlarged spleen and liver, coarse and thick facial features (square jaw with broad mouth) with lowered nasal bridge, intellectual disability and halted growth. Children, if not treated early for the disease may die, before the age of 10. But, with available treatment for Hurler syndrome the child may live longer. Hurler syndrome may occur in mild form called as Scheie or MPS I or an intermediate form called as Hurler Scheie syndrome or MPS HIS.
Is Hurler Syndrome Treatable?
Yes, the disease can be treated depending upon the child’s age and severity of the disease. Many treatments are available that may ameliorate or prevent certain symptoms.
Enzyme Replacement Therapy
Recombinant human alpha L iduronidase can be used as an enzyme replacement therapy to overcome the lack of iduronidase enzyme and offer benefit to the patients of Hurler syndrome, by relieving certain symptoms of them. It is a new treatment approach that is still on its infancy levels.
Bone Marrow Transplant
Bone marrow transplant, if performed before the age of 2 years may improve mental development in children, though it may not show improvements in eye or bone symptoms. It may elongate the life of the child for a few more years.
Umbilical Cord Blood Treatment
Cord plant transplant may prevent mental decline, if done prior to any severe damage, usually before 18 months of age of the child. But, the procedure carries high risk of life that may bring about various different outcomes.
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