Gurler

Gurler: a rare glycosaminoglycan-related disease

Hurler, also known as Pfaundler-Gunter disease, is a rare inherited disease that belongs to the group of lysosomal storage diseases. This disease was originally described by German pediatricians G. Hurler and M. Pfaundler in 1919, as well as by the English physician S. Hunter in 1917.

Hurler is caused by problems with the genes responsible for producing an enzyme known as lysosomal alpha-l-iduronidase. This enzyme is needed to break down glycosaminoglycans (GAGs), complex molecules that help create cartilage, connective tissue and other parts of the body.

In people suffering from Hurler, GAGs accumulate in tissues and organs, leading to a variety of symptoms, including mental retardation, growth retardation, skeletal deformities, visual and hearing impairment, and cardiovascular problems.

Gurler is a rare condition that is inherited in a recessive manner, meaning both parents must pass on the faulty gene for a child to develop the condition. The incidence of Hurler is approximately 1 in 100,000 births.

Gurler's treatment is aimed at reducing symptoms and improving the patient's quality of life. To date, there is no direct treatment for this disease. However, some treatments, such as bone marrow transplant and enzyme replacement therapy, can help improve the patient's condition.

In conclusion, Gurler is a rare inherited disease that is caused by a disorder of glycosaminoglycan metabolism. This disease results in severe symptoms that can significantly affect the patient's quality of life. Although there is no direct cure, some treatments may help improve the patient's condition and reduce symptoms.