Scheie syndrome
Scheie syndrome is a rare genetic disorder that affects the body's ability to break down certain complex carbohydrates. It is caused by a deficiency in the enzyme alpha-L-iduronidase, which leads to the accumulation of glycosaminoglycans in various tissues. This condition is part of a group of disorders known as mucopolysaccharidoses.
Individuals with Scheie syndrome may experience a range of symptoms, including joint stiffness, corneal clouding, and heart problems. The severity of symptoms can vary widely among affected individuals. Early diagnosis and management can help improve quality of life and address specific health issues associated with the syndrome.