Hurler-Scheie syndrome

Hurler-Scheie syndrome is a genetic disorder caused by the buildup of glycosaminoglycans in various body tissues, resulting from a deficiency of the enzyme iduronidase needed to break them down inside cells, which makes it a lysosomal storage disease. It typically causes mild intellectual disability and clouding of the cornea, and respiratory problems, sleep apnea and heart disease can develop by adolescence. Hurler-Scheie syndrome is one point on a disease spectrum called mucopolysaccharidosis type I, sitting between the more severe Hurler syndrome and the milder Scheie syndrome.