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Aurora magazine

Hunter syndrome: causes and symptoms

Hunter syndrome, also called Type II mucopolysaccharides, is a rare genetic disorder. According to the data, around 2,000 people with this disease would be around the world. Those who suffer from it have symptoms such as mental retardation, macrocephaly, aggression.

Hunter is a lysosomal disease, which is caused by the deficiency of an enzyme. Specifically, subjects suffer from an L-iduronate-2-sulphatase (I2S) enzyme deficiency. This is due to the catabolism of mucopolysaccharides or GAG. When absent, the substances accumulate in the cells and lead to a progressive deterioration of heart, liver, spleen, bones and brain.

Depending on the severity, Hunter's syndrome is distinct in Form A and Form B. Form A is the most serious and premature, so it usually leads to death within the fifteenth year of life. In many respects it is similar to another illness involving mucopolysaccharides, Huler's disease. Those who suffer from Form A have gross features and bony deformities. It is often of low stature, showing muscle rigidity and mental retardation.

Most of the time, type A Hunter syndrome shows up to 2-4 years. Children show progressive neurological and somatic deterioration. Over time, the symptoms evolve into chronic diarrhea and mucous dysfunction. Most patients die before adolescence

Hunter's B-form B manifests itself later and is less severe, so much so that those who suffer from it almost always come to adulthood. B is linked to carpal tunnel syndrome, joint stiffness, and cervical myelope due to narrowing of the spinal canal. Many patients show discrete corneal opacity and retinal dysfunctions, though less extensive than that of the severe form.