Persons with Scheie syndrome are missing a substance called lysosomal alpha-L-iduronidase. This substance, called an enzyme, helps break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). These molecules are found throughout the body, often in mucus and in fluid around the joints. Without the enzyme, glycosaminoglycans build up and damage organs, including the heart. Symptoms can range from mild to severe. Scheie syndrome is the mildest form of mucopolysaccharidosis type 1. The syndrome is syndrome is transmitted as an autosomal recessive trait.
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