Mucopolysaccharidosis type II

Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare, progressive X-linked recessive lysosomal storage disease primarily affecting males Clinical manifestations include coarse facial features, airway obstruction, joint stiffness, skeletal deformities, hepatosplenomegaly, and cardiovascular complications, with severe forms additionally exhibiting progressive neurocognitive decline

Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare, progressive X-linked recessive lysosomal storage disease primarily affecting males

It is caused by a deficiency in the enzyme iduronate-2-sulfatase, which results in the pathological accumulation of glycosaminoglycans, specifically heparan sulfate and dermatan sulfate, across various tissues and organs Clinical manifestations include coarse facial features, airway obstruction, joint stiffness, skeletal deformities, hepatosplenomegaly, and cardiovascular complications, with severe forms additionally exhibiting progressive neurocognitive decline

It is caused by a deficiency in the enzyme iduronate-2-sulfatase, which results in the pathological accumulation of glycosaminoglycans, specifically heparan sulfate and dermatan sulfate, across various tissues and organs

Clinical manifestations include coarse facial features, airway obstruction, joint stiffness, skeletal deformities, hepatosplenomegaly, and cardiovascular complications, with severe forms additionally exhibiting progressive neurocognitive decline