Scheie syndrome: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Scheie syndrome | |||
| image = [[File:Mucopolysaccharidosis_(Scheie's_Syndrome)_1.jpg|250px]] | |||
| caption = Clinical presentation of Scheie syndrome | |||
| synonyms = MPS I-S, [[Mucopolysaccharidosis type I]] | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Corneal clouding]], [[joint stiffness]], [[carpal tunnel syndrome]], [[aortic valve disease]] | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the [[IDUA]] gene | |||
| risks = Family history | |||
| diagnosis = [[Genetic testing]], [[urine test]] for [[glycosaminoglycans]] | |||
| differential = [[Hurler syndrome]], [[Hunter syndrome]] | |||
| treatment = [[Enzyme replacement therapy]], [[hematopoietic stem cell transplantation]] | |||
| medication = [[Laronidase]] | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
{{Short description|A rare genetic disorder}} | {{Short description|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]]. | '''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== | ==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. | 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== | ==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. | 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== | ==Clinical Features== | ||
Individuals with Scheie syndrome typically present with symptoms later in childhood or adolescence. Common clinical features include: | Individuals with Scheie syndrome typically present with symptoms later in childhood or adolescence. Common clinical features include: | ||
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* [[Cardiac abnormalities]], such as [[valvular heart disease]] | * [[Cardiac abnormalities]], such as [[valvular heart disease]] | ||
* [[Hernias]] | * [[Hernias]] | ||
Unlike the more severe forms of MPS I, individuals with Scheie syndrome usually have normal intelligence and a normal lifespan. | Unlike the more severe forms of MPS I, individuals with Scheie syndrome usually have normal intelligence and a normal lifespan. | ||
==Diagnosis== | ==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. | 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== | ==Treatment== | ||
There is no cure for Scheie syndrome, but treatment focuses on managing symptoms and improving quality of life. Options include: | There is no cure for Scheie syndrome, but treatment focuses on managing symptoms and improving quality of life. Options include: | ||
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* Surgical interventions for [[carpal tunnel syndrome]] and [[corneal clouding]] | * Surgical interventions for [[carpal tunnel syndrome]] and [[corneal clouding]] | ||
* Physical therapy to maintain joint mobility | * Physical therapy to maintain joint mobility | ||
==Prognosis== | ==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. | 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. | ||
==See also== | |||
== | |||
* [[Mucopolysaccharidosis]] | * [[Mucopolysaccharidosis]] | ||
* [[Hurler syndrome]] | * [[Hurler syndrome]] | ||
* [[Hurler-Scheie syndrome]] | * [[Hurler-Scheie syndrome]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Mucopolysaccharidoses]] | [[Category:Mucopolysaccharidoses]] | ||
Latest revision as of 15:51, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Scheie syndrome | |
|---|---|
_1.jpg)
| |
| Synonyms | MPS I-S, Mucopolysaccharidosis type I |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Corneal clouding, joint stiffness, carpal tunnel syndrome, aortic valve disease |
| Complications | N/A |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the IDUA gene |
| Risks | Family history |
| Diagnosis | Genetic testing, urine test for glycosaminoglycans |
| Differential diagnosis | Hurler syndrome, Hunter syndrome |
| Prevention | N/A |
| Treatment | Enzyme replacement therapy, hematopoietic stem cell transplantation |
| Medication | Laronidase |
| Prognosis | N/A |
| Frequency | Rare |
| Deaths | |
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[edit]
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[edit]
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[edit]
Individuals with Scheie syndrome typically present with symptoms later in childhood or adolescence. Common clinical features include:
- Joint stiffness and contractures
- Corneal clouding
- Carpal tunnel syndrome
- Hearing loss
- Cardiac abnormalities, such as valvular heart disease
- Hernias
Unlike the more severe forms of MPS I, individuals with Scheie syndrome usually have normal intelligence and a normal lifespan.
Diagnosis[edit]
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[edit]
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
Prognosis[edit]
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.
