scheie syndrome scheie syndrome scheie syndrome is a disease caused by a deficiency in the enzyme iduronidase, leading to the buildup of glycosaminoglycans (gags) in the body. it is the most mild subtype of mucopolysaccharidosis type i; the most severe subtype of this disease is called hurler syndrome. scheie syndromeother namesmps i-sstructure of dermatan sulfate, one of the molecules that accumulates in the lysosomes of hurler syndrome patientssymptomssymptoms are variable, but may include: mild learning disabilities, psychiatric issues, visual problems, skeletal deformities, carpal tunnel syndrome, aortic valve disease, and/or sleep apneausual onsetsymptoms may appear by age 5; diagnosis is usually made after age 10causesdeficiency of the alpha-l iduronidase enzymedifferential diagnosisother forms of mps i; hunter syndrome; other mucopolysaccharidosestreatmentenzyme replacement therapy with iduronidase; surgery may be necessaryprognosisthese patients may live to adulthood.frequency1 in 500,0000 scheie syndrome is characterized by corneal clouding, facial dysmorphism, and normal lifespan. people with this condition may have aortic regurgitation. symptoms the symptoms of scheie syndrome are variable, but are milder than hurler syndrome. symptoms may begin to appear by age 5, but affected children are often not diagnosed until after age 10. patients with scheie syndrome may have normal intelligence, or they may have mild learning impairments or psychiatric problems. glaucoma, retinal degeneration, and clouded corneas may cause visual impairments. aortic valve disease may be present, along with carpal tunnel syndrome, deformed hands and feet, stiff joints, or sleep apnea. people with scheie syndrome may live into adulthood. genetics scheie syndrome has an autosomal recessive pattern of inheritance. children with scheie syndrome carry two defective copies of the idua gene, which has been mapped to the 4p16.3 site on chromosome 4. this is the gene which encodes for the protein iduronidase. all patients with subtypes of mps i have mutations in the same gene, leading to deficiencies of the same enzyme. however, patients with scheie syndrome have a greater level of iduronidase activity than patients with hurler syndrome. because scheie syndrome is an autosomal recessive disorder, affected persons have two nonworking copies of the gene. a person born with one normal copy and one defective copy is called a carrier. they will produce less α-l-iduronidase than an individual with two normal copies of the gene. the reduced production of the enzyme in carriers, however, remains sufficient for normal function; the person should not show any symptoms of the disease. history in 1919, gertrud hurler, a german pediatrician, described a syndrome involving corneal clouding, skeletal abnormalities, and intellectual disability. this became known as hurler syndrome. in 1962, a milder variant of hurler syndrome was identified by dr. harold g. scheie, an ophthalmologist, leading to the designation of scheie syndrome.