![]() ![]() The onset of symptoms in individuals with Scheie syndrome usually occurs around the age of five. Symptoms include stiff joints, carpal tunnel syndrome, backward flow of blood into the heart (aortic regurgitation), and clouding of the cornea that may result in the loss of visual acuity. Individuals with Scheie syndrome have normal intelligence, height, and life expectancy. However, in Scheie syndrome the deficiency is specific for accumulation of dermatan sulfate. As in Hurler syndrome, individuals with Scheie syndrome have a deficiency of the enzyme alpha-L-iduronidase. Scheie syndrome (mucopolysaccharidosis type I-S MPS 1-S) is the mildest form of mucopolysaccharidosis. Mental development begins to regress at about the age of two. Additional physical problems may include clouding of the cornea of the eye, an unusually large tongue, severe deformity of the spine, and joint stiffness. Affected infants may experience developmental delays, recurrent urinary and upper respiratory tract infections, noisy breathing and persistent nasal discharge. Symptoms of the disorder first become evident at six months to two years of age. It is characterized by a deficiency of the enzyme alpha-L-iduronidase, which results in an accumulation of dermatan and heparan sulfates. Hurler syndrome (mucopolysaccharidosis type 1-H MPS 1-H) is the most severe form of mucopolysaccharidosis. Specifically, the mucopolysaccharides known as dermatan sulfate, heparan sulfate, or keratan sulfate may be involved alone or in some combination. There are different types of mucopolysaccharides that are not broken down due to enzyme malfunction or deficiency. In most cases, the mucopolysaccharidoses are chronic, progressive disorders and, depending upon the type of MPS and severity, affected individuals may experience a decline in physical and mental function, sometimes resulting in life-threatening complications. Mild forms of these disorders may not become apparent until childhood or adolescence. Initial symptoms may include frequent colds, runny nose, infections, growth delays, or mild developmental delays. In most cases of MPS, affected infants appear normal at birth and symptoms become apparent around the age of one or two, however, in MPS VII, approximately 40% of pregnancies with an affected baby are complicated by a condition called non-immune hydrops fetalis that may be detected on routine ultrasound examination. The severity of the different MPS disorders varies greatly among affected individuals, even among those with the same type of MPS and even among individuals of the same family. Additional findings include short stature, heart abnormalities, breathing irregularities, liver and spleen enlargement (hepatosplenomegaly), and/or neurological abnormalities. Individuals with MPS disorders share many similar symptoms such as multiple organ involvement, distinctive “coarse” facial features, and abnormalities of the skeleton especially joint problems. 5 Myths About Orphan Drugs and the Orphan Drug Act. ![]() Information on Clinical Trials and Research Studies.
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