Hurler syndrome is a very rare form of genetic disorder that occurs due to insufficient amounts of alpha-L-iduronidase, an enzyme that plays a vital role in human metabolic processes. The syndrome belongs to a group of genetic disorders known as mucopolysaccharidoses (MPS1 H), along with Hurler-Scheie syndrome (MPS1 H-S) and Scheie syndrome (MPS1 S). They all exhibit similar symptoms and only differ as far as severity is concerned.
It was Dr. Gertrud Hurler who first identified the genetic disorder in 1919. The syndrome rarely occurs, affecting only about 1 out of 100,000 births. The condition also occurs in virtually any ethnicity. Life expectancy is contained on the first 10 years of life.
Hurler Syndrome causes
Hurler syndrome occurs when a person gets the defective genes or chromosomes from both parents. It is inherited by means of autosomal recessive pattern wherein both parents have the defective genes and their child will exhibit the linked symptoms. However, a child may still have the defective gene and not show any symptoms of the syndrome if only one of his or her parent has it. The symptoms of Hurler syndrome will only become apparent when the child inherits the defective genes from both parents.
The disorder is caused by insufficient amounts of alpha-L-iduronidase enzyme whose function is to break down the long chain of glycosaminoglycans (sugar molecules) so the body can discard them. If the body does not have enough of the enzyme, glycosaminoglycans will accumulate inside the body which can cause severe damage to vital organs such as the heart, as well as cause progressive and permanent damage to the brain, physical abilities, appearance and organ functions.
Symptoms of Hurler’s Syndrome
Hurler syndrome is manifested during early childhood and is characterized by deafness, short physique, corneal clouding, mental retardation, heart disease, bone problems, joint stiffness, large head, flat face and short nose.
Are there tests employed to detect Hurler syndrome?
Genetic testing and amniocentesis can detect the syndrome early, even during pregnancy. Other tests used in diagnosing the condition are X-ray of the spine, EKG and urine testing. There is no cure for Hurler syndrome and the prognosis is poor. Management can enhance the quality of life of the patient by alleviating the symptoms and treating the complications. Hurler syndrome treatment options include enzyme replacement therapy, bone marrow transplant and physical therapy.
Hurler’s syndrome pictures