Scheie syndrome
| Scheie syndrome | |
|---|---|
| Other names | MPS I-S |
| Patient with Scheie syndrome | |
| Symptoms | Symptoms are variable, but may include: mild learning disabilities, psychiatric issues, visual problems, skeletal deformities, carpal tunnel syndrome, aortic valve disease, and/or sleep apnea |
| Usual onset | Symptoms may appear by age 5; diagnosis is usually made after age 10 |
| Causes | Deficiency of the alpha-L iduronidase enzyme |
| Differential diagnosis | Other forms of MPS I; Hunter syndrome; other mucopolysaccharidoses |
| Treatment | Enzyme replacement therapy with iduronidase; surgery may be necessary |
| Prognosis | These patients may live to adulthood. |
| Frequency | 1 in 5,000,000 |
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 syndrome is characterized by corneal clouding, facial dysmorphism, and normal lifespan. People with this condition may have aortic regurgitation.