Scheie syndrome, also known as MPS I-S, is a rare genetic disorder that falls under the umbrella of mucopolysaccharidosis type I (MPS I). MPS I is a group of inherited metabolic disorders caused by the deficiency of an enzyme called alpha-L-iduronidase.
Scheie syndrome is the mildest form within the MPS I spectrum. Individuals with Scheie syndrome have a partial deficiency of alpha-L-iduronidase, resulting in the buildup of mucopolysaccharides (specifically dermatan sulfate and heparan sulfate) within various cells and tissues of the body. This accumulation progressively leads to a wide range of symptoms affecting multiple systems.
Symptoms of Scheie syndrome typically appear in childhood or adolescence, but the disease progression is slower compared to the severe forms of MPS I. Common clinical features include joint stiffness, skeletal abnormalities, heart valve disease, short stature, corneal clouding (which affects vision), and hepatosplenomegaly (enlarged liver and spleen). Additionally, individuals may also experience hernias, hearing loss, thickened skin, and respiratory difficulties.
Diagnosis of Scheie syndrome involves a combination of clinical evaluation, assessment of medical history, and specific laboratory tests such as enzyme activity assays and genetic testing. Treatment approaches primarily focus on symptom management and supportive care. For instance, physical therapy can help maintain joint mobility, while surgery may be considered for addressing specific complications like heart valve issues.
While there is currently no cure for Scheie syndrome or MPS I as a whole, ongoing research aims to develop innovative therapies, such as enzyme replacement therapy and gene therapy, with the goal of improving the quality of life for affected individuals.
