Scheie syndrome

Scheie syndrome is a disease caused by a deficiency in the enzyme iduronidase, which leads to a buildup of glycosaminoglycans, or GAGs, in the body. It is the mildest subtype of mucopolysaccharidosis type I; the most severe subtype of the same disease is called Hurler syndrome. The source describes Scheie syndrome as characterized by corneal clouding, facial dysmorphism and a normal lifespan, and says that people with the condition may have aortic regurgitation. This record is limited to the source's opening summary and is not medical advice.