Shire Human Genetic
Hunter syndrome, or why an enzyme
Hunter Syndrome (Gunther) is a rare, life-threatening genetic disease resulting from a deficiency of enzymes that control the removal of toxins. This leads to the accumulation of protein-carbohydrate complexes and fats in the cells, i.e. accumulated toxins slowly poison the body. Gradually, the child’s bones become deformed and internal organs become inflamed. He is degrading and dying.
The medical name for this disease is mucopolysaccharidosis type II (mucopolysaccharidosis type II) or MPS II.
What is gargoyleism
Hunter syndrome is a hereditary disease, the type of inheritance is X-linked recessive (i.e., lesion occurs only in boys). The first signs of the disease appear in 2 to 4 years. Prior to this, expressed clinical manifestations were not observed, with the exception of noisy breathing in infants due to obstruction of the upper respiratory tract, repeated rhinitis, inguinal and umbilical hernias. Continue reading