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...
Cornwall, UK Hurlers Cross, village in County Clare, Ireland Hurler–Scheiesyndrome or mucopolysaccharidosis type I H-S Pseudo-Hurler polydystrophy, or...
Sly syndrome Mucopolysaccharidosis type I Hurler syndrome Mucopolysaccharidosis type I Hurler/Scheiesyndrome Mucopolysaccharidosis type I Scheie syndrome...
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...
and periodic fever syndromes. Some genetic skeletal dysplasias as forms of mucopolysaccharidosis especially type1 Scheiesyndrome, progressive pseudorheumatoid...
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...
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,...