Hurler Syndrome have described by German pediatrician Gertrud Hurler in year 1919. This disease is a rare lysosomal storage disease that haver reported in 1 of 100.000 people also. It has an autosomal recessive inheritance also. A lysosomal enzyme deficiency named α1-iduronidase will cause to this disease. Accumulation of glycosaminoglycans (GAG) within the lysosomes causes to multiorgan dysfunction. It is currently bad luck, because there is no cure for this disease.
There is a mutation on IDUA (Alpha-L-Iduronidase) gene on chromosome 4 that reduces the function of IDUA (Alpha-L-Iduronidase) enzyme. Because of autosomal recessive inheritance this disease may mostly seen in consanguineous marriages. In affected families 1 of 4 children will have this disease. If a affected child will seen, prenatal diagnosis is necessary for other pregnancies.
The symptoms usually starts in 6 months after birth. Abnormal type growing of the head may always the first symptom. This patients have characteristic facial features like prominent forehead, depressed nasal bridge and plump cheeks and lips. In later stages the mouth will often stay open. With it, the tongue will stay between the lips and teeth also. Hearing impairment may develop too. Because of corneal involvement visual impairment will develop also. Visual impairment is the most serious problem for this patients. The liver and spleen will become larger than normal (Hepatomegaly and splenomegaly will develop). Wide hands and short fingers may seen due to abnormal skeletal development. Malformed bones like rips, collarbones and vertebrates may seen also. Glycosaminoglycans accumulations in the brain causes to delayed mental development.
There is no cure available for this disease. The treatment is symptomatic for example hernia repair, surgical decompression of the spinal cord, removal of the tonsils and adenoids for prevent from infection, ear tube placement in order to reduce middle ear infections, orthopedic procedures for skeletal problems and corneal transplants for visual loss. These treatments may applied for better life quality and a longer life expectancy.
Hurler syndrome patients will usually die before 10 years of age. The mean life expectancy is 8.5 years. Some of these patients may live up to 15 years of age with umbilical cord blood transplantation, and enzyme replacement therapy.