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| {{Infobox medical condition (new) | | {{Short description|A rare genetic disorder}} |
| | name = Scheie syndrome | | {{Medical resources}} |
| | image = Dermatan sulfate.PNG
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| | caption = Structure of dermatan sulfate, one of the molecules that accumulates in the lysosomes of Hurler syndrome patients
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| | symptoms = 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]]
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| | synonyms = '''MPS I-S'''
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| | onset = Symptoms may appear by age 5; diagnosis is usually made after age 10
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| | duration =
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| | types =
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| | causes = Deficiency of the alpha-L iduronidase enzyme
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| | risks =
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| | diagnosis =
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| | differential = Other forms of [[mucopolysaccharidosis type I|MPS I]]; [[Hunter Syndrome]]; other [[mucopolysaccharidosis|mucopolysaccharidoses]]
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| | prevention =
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| | treatment = Enzyme replacement therapy with iduronidase; surgery may be necessary
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| | medication =
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| | prognosis = These patients may live to adulthood.
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| | frequency = 1 in 500,0000<ref name=NINDS>{{cite web|url=https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Mucopolysaccharidoses-Fact-Sheet |title=Mucopolysaccharidoses Fact Sheet |publisher=[[National Institute of Neurological Disorders and Stroke]]|accessdate=11 May 2018 |date=15 Nov 2017}}</ref>
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| | deaths =
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| '''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 a rare genetic disorder that is classified as a type of [[mucopolysaccharidosis]], specifically [[Mucopolysaccharidosis type I]] (MPS I). It is the mildest form of MPS I, with the other forms being [[Hurler syndrome]] and [[Hurler-Scheie syndrome]]. |
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| Scheie syndrome is characterized by corneal clouding, facial dysmorphism, and normal lifespan.<ref>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.</ref><ref>{{cite book|last=Bonakdar-Pour|first=Akbar|title=Diagnostic Imaging of Musculoskeletal Diseases: A Systematic Approach|url=https://books.google.com/?id=wVSxe5bxW50C&pg=PA569&dq=scheie+disease#v=onepage&q=scheie%20disease&f=false|isbn=9781597453554|date=2010-06-09}}</ref> People with this condition may have aortic regurgitation.<ref name="nih">{{cite web|url=https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002226/|title=Scheie syndrome - National Library of Medicine - PubMed Health|publisher=ncbi.nlm.nih.gov|accessdate=19 January 2014}}</ref>
| | ==Pathophysiology== |
| | | Scheie syndrome is caused by a deficiency of the enzyme [[alpha-L-iduronidase]], which is responsible for breaking down [[glycosaminoglycans]] (GAGs), specifically [[dermatan sulfate]] and [[heparan sulfate]]. The accumulation of these substances in the body leads to the various symptoms associated with the disorder. |
| ==Symptoms== | |
| The symptoms of Scheie syndrome are variable, but are milder than Hurler Syndrome. Symptoms may begin to appear by age 5, but affected children are often not diagnosed until after age 10. Patients with Scheie Syndrome may have normal intelligence, or they may have mild learning impairments or psychiatric problems. [[Glaucoma]], [[retinopathy|retinal degeneration]], and clouded [[cornea]]s may cause visual impairments. [[Aortic valve]] disease may be present, along with [[carpal tunnel syndrome]], deformed hands and feet, stiff joints, or [[sleep apnea]]. People with Scheie syndrome may live into adulthood.<ref name=NINDS/>
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| ==Genetics== | | ==Genetics== |
| | Scheie syndrome is inherited in an [[autosomal recessive]] manner. This means that an individual must inherit two copies of the defective gene, one from each parent, to manifest the disease. The gene responsible for Scheie syndrome is located on chromosome 4p16.3. |
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| [[Image:autorecessive.svg|thumb|right|Scheie syndrome has an autosomal recessive pattern of inheritance.]]
| | ==Clinical Features== |
| | | Individuals with Scheie syndrome typically present with symptoms later in childhood or adolescence. Common clinical features include: |
| Children with Scheie Syndrome carry two defective copies of the ''IDUA'' gene, which has been mapped to the 4p16.3 site on [[chromosome 4]]. This is the gene which encodes for the protein iduronidase. All patients with subtypes of MPS I have mutations in the same gene, leading to deficiencies of the same enzyme. However, patients with Scheie Syndrome have a greater level of iduronidase activity than patients with Hurler Syndrome.
| | * [[Joint stiffness]] and [[contractures]] |
| | | * [[Corneal clouding]] |
| Because Scheie syndrome is an [[autosomal]] [[recessive]] disorder, affected persons have two nonworking copies of the gene. A person born with one normal copy and one defective copy is called a [[genetic carrier|carriers]]. They will produce less α-L-iduronidase than an individual with two normal copies of the gene. The reduced production of the enzyme in carriers, however, remains sufficient for normal function; the person should not show any symptoms of the disease.
| | * [[Carpal tunnel syndrome]] |
| | | * [[Hearing loss]] |
| ==History==
| | * [[Cardiac abnormalities]], such as [[valvular heart disease]] |
| In 1919, [[Gertrud Hurler]], a German pediatrician, described a syndrome involving corneal clouding, skeletal abnormalities, and mental retardation. This became known as Hurler Syndrome.<ref>{{WhoNamedIt|synd|1111|Hurler's syndrome}}</ref><ref>{{cite journal |author=Hurler, G. |title=Über einen Typ multipler Abartungen, vorwiegend am Skelettsystem |journal=Zeitschrift für Kinderheilkunde |volume=24 |issue=5–6 |pages=220–234 |year=1919 |doi=10.1007/BF02222956 }}</ref> In 1962, a milder variant of Hurler Syndrome was identified by Scheie, leading to the designation of Scheie syndrome.<ref name="Moore">{{Cite journal|last=Moore|first=David|last2=Connock|first2=Martin J.|last3=Wraith|first3=Ed|last4=Lavery|first4=Christine|date=2008-01-01|title=The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK|journal=Orphanet Journal of Rare Diseases|volume=3|pages=24|doi=10.1186/1750-1172-3-24|issn=1750-1172|pmc=2553763|pmid=18796143}}</ref>
| | * [[Hernias]] |
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| == '''Diagnostic methods''' ==
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| * Early diagnosis is difficult because the first clinical signs are not specific, but is very important to allow early treatment. | |
| * Diagnosis is based on detection of increased urinary secretion of [[heparan sulfate]] and [[dermatan sulfate]] through the [[1,9-dimethylmethylene blue]] (DMB) test and [[glycosaminoglycan]] (GAG) [[electrophoresis]], and demonstration of enzymatic deficiency in leukocytes or [[fibroblasts]].
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| * [[Genetic testing]] is available. | |
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| '''Antenatal diagnosis'''
| | Unlike the more severe forms of MPS I, individuals with Scheie syndrome usually have normal intelligence and a normal lifespan. |
| Antenatal diagnosis is possible by measurement of enzymatic activity in cultivated [[chorionic villus]] or [[amniocyte]] and by [[genetic testing]] if the disease-causing mutation is known.
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| == '''Treatment''' == | | ==Diagnosis== |
| * Management should be carried out by a multidisciplinary team and should include [[physiotherapy]] to maintain range of movement.
| | The diagnosis of Scheie syndrome is based on clinical evaluation, family history, and laboratory tests. Enzyme assays can measure the activity of alpha-L-iduronidase in blood or fibroblasts. Genetic testing can confirm mutations in the IDUA gene. |
| * The enzyme substitute ([[laronidase]]) obtained EU marketing authorization as an orphan drug in 2003.
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| * Given through weekly infusions it leads to improvement of lung function and joint mobility.
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| * [[Enzyme replacement therapy ] (ERT) should be started at diagnosis and may be beneficial in patients awaiting [[hematopoietic stem cell transplantation]] (HSCT).
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| * Early treatment slows the progression of the disease.
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| == '''Prognosis''' == | | ==Treatment== |
| Life expectancy for patients with Scheie syndrome may only be slightly affected.
| | There is no cure for Scheie syndrome, but treatment focuses on managing symptoms and improving quality of life. Options include: |
| | * [[Enzyme replacement therapy]] (ERT) with laronidase |
| | * Surgical interventions for [[carpal tunnel syndrome]] and [[corneal clouding]] |
| | * Physical therapy to maintain joint mobility |
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| == See also == | | ==Prognosis== |
| * [[Hunter syndrome]] (MPS II)
| | The prognosis for individuals with Scheie syndrome is generally good, with most individuals leading a normal lifespan. However, they may experience progressive symptoms that require ongoing management. |
| * [[Sanfilippo syndrome]] (MPS III)
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| * [[Morquio syndrome]] (MPS IV)
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| == References == | | ==Related pages== |
| {{reflist}}
| | * [[Mucopolysaccharidosis]] |
| == External links ==
| | * [[Hurler syndrome]] |
| {{Medical resources
| | * [[Hurler-Scheie syndrome]] |
| | ICD10 = E76.0
| | * [[Genetic disorders]] |
| | ICD9 = <!--{{ICD9|xxx}}-->
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| | ICDO =
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| | OMIM = 607016
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| | DiseasesDB =
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| | eMedicineSubj =
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| | MeSH =
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| | GeneReviewsNBK =
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| | Orphanet = 93474
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| }}
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| [[Category:Proteoglycan metabolism disorders]] | |
| [[Category:Syndromes]] | |
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| {{Mucopolysaccharidoses}}
| | [[Category:Genetic disorders]] |
| | [[Category:Rare diseases]] |
| | [[Category:Mucopolysaccharidoses]] |
A rare genetic disorder
Scheie syndrome is a rare genetic disorder that is classified as a type of mucopolysaccharidosis, specifically Mucopolysaccharidosis type I (MPS I). It is the mildest form of MPS I, with the other forms being Hurler syndrome and Hurler-Scheie syndrome.
Pathophysiology
Scheie syndrome is caused by a deficiency of the enzyme alpha-L-iduronidase, which is responsible for breaking down glycosaminoglycans (GAGs), specifically dermatan sulfate and heparan sulfate. The accumulation of these substances in the body leads to the various symptoms associated with the disorder.
Genetics
Scheie syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, to manifest the disease. The gene responsible for Scheie syndrome is located on chromosome 4p16.3.
Clinical Features
Individuals with Scheie syndrome typically present with symptoms later in childhood or adolescence. Common clinical features include:
Unlike the more severe forms of MPS I, individuals with Scheie syndrome usually have normal intelligence and a normal lifespan.
Diagnosis
The diagnosis of Scheie syndrome is based on clinical evaluation, family history, and laboratory tests. Enzyme assays can measure the activity of alpha-L-iduronidase in blood or fibroblasts. Genetic testing can confirm mutations in the IDUA gene.
Treatment
There is no cure for Scheie syndrome, but treatment focuses on managing symptoms and improving quality of life. Options include:
Prognosis
The prognosis for individuals with Scheie syndrome is generally good, with most individuals leading a normal lifespan. However, they may experience progressive symptoms that require ongoing management.
Related pages
