Scheie syndrome is one of a number of heritable mucopolysaccharide storage diseases and is characterized by the absence of the enzyme a-L-iduronidase and the excretion of increased levels of dermatan and heparan sulfate in the urine.
Alternative Names
Mucopolysaccharidosis type I; Mucopolysaccharidosis type IS
Causes, incidence, and risk factors
Scheie syndrome is transmitted as an autosomal recessive trait. Scheie syndrome exhibits the same enzyme defect as Hurler syndrome but is usually milder. It is the mildest form of mucopolysaccharide storage disease. Symptoms may not appear until 4 or 5 years of age. Normal mentality is maintained. Clinical features are joint limitations, inguinal hernias, a broad mouth with full lips, and clouding of the cornea that occurs early. Affected children also develop juvenile onset of stiff joints, with development of claw hands and deformed feet. As in Morquio syndrome , affected people may develop problems with the aortic valve.
Treatment
There is no specific treatment for Scheie syndrome. Ongoing research into enzyme replacement therapy may offer treatment in the future. Early recognition and treatment of spinal cord compression can prevent permanent nerve damage. Treatment for heart problems caused by leaky valves is the same as in mainstream medicine.
Support groups
National MPS Society, Inc. 102 Aspen Dr Downingtown, PA 19335 Phone: 610-942-0100 Website: http://www.mpssociety.org E-mail : info@mpssociety.org
Expectations (prognosis)
Scheie syndrome is compatible with an almost normal lifespan. However, some disabilities such as limitation of joints, blindness or deafness are likely in later decades.
Calling your health care provider
Call your health care provider if you have a family history of this disease or if you have symptoms suggestive of this disorder.
Prevention
Genetic counseling is recommended for prospective parents with a family history os Scheie syndrome.