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[1]
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.[2][3] People with this condition may have aortic regurgitation.[4]
^"Mucopolysaccharidoses Fact Sheet". National Institute of Neurological Disorders and Stroke. 15 Nov 2017. Retrieved 11 May 2018.
^Ropper AH, Samuels MA, "Chapter 37. Inherited Metabolic Diseases of the Nervous System" (Chapter). Ropper AH, Samuels MA: Adams and Victor's Principles of Neurology, 9e: http://www.accessmedicine.com/content.aspx?aID=3636356.
^Bonakdar-Pour, Akbar (2010-06-09). Diagnostic Imaging of Musculoskeletal Diseases: A Systematic Approach. Springer. ISBN 9781597453554.
^"Scheie syndrome - National Library of Medicine - PubMed Health". ncbi.nlm.nih.gov. Retrieved 19 January 2014.
Scheiesyndrome is a disease caused by a deficiency in the enzyme iduronidase, leading to the buildup of glycosaminoglycans (GAGs) in the body. It is...
severe forms of MPS Type I include Hurler–Scheiesyndrome (MPS-IHS) and Scheiesyndrome (MPS-IS). Hurler syndrome is classified as a lysosomal storage disease...
apnea. Persons with Scheiesyndrome can live into adulthood. MPS I H-S, Hurler–Scheiesyndrome, is less severe than Hurler syndrome alone. Symptoms generally...
Hurler syndrome, is the most severe of the MPS I subtypes. The other two types are MPS I S (Scheiesyndrome) and MPS I H-S (Hurler–Scheiesyndrome).[citation...
In milder cases, patients present similarly to children with Hurler–Scheiesyndrome, and a diagnosis is usually made between the ages of 4 and 8 years...
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Cornwall, UK Hurlers Cross, village in County Clare, Ireland Hurler–Scheiesyndrome or mucopolysaccharidosis type I H-S Pseudo-Hurler polydystrophy, or...
MPS I Hurler syndrome MPS I S Scheiesyndrome MPS I H-S Hurler–Scheiesyndrome Type II (Hunter syndrome) Type III (Sanfilippo syndrome) MPS III A (Type...
known as Hurler syndrome and type I,S is known as Scheiesyndrome, which has a milder prognosis compared to Hurler's. In this syndrome, glycosaminoglycans...
and periodic fever syndromes. Some genetic skeletal dysplasias as forms of mucopolysaccharidosis especially type1 Scheiesyndrome, progressive pseudorheumatoid...
disease that came to be known as Hurler syndrome and a lesser version which is known as Hurler–Scheiesyndrome. Gertrud Hurler was born in Taberwiese,...
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