Scheie Syndrome
Disease Details
Family Health Simplified
- Description
- Scheie syndrome, also known as mucopolysaccharidosis type I-S (MPS I-S), is a genetic disorder that affects the body's ability to break down glycosaminoglycans, leading to progressive tissue and organ damage.
- Type
- Scheie syndrome is a type of mucopolysaccharidosis, specifically MPS I-S. It is inherited in an autosomal recessive pattern.
- Signs And Symptoms
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Scheie syndrome, also known as Mucopolysaccharidosis type I-S (MPS I-S), is a lysosomal storage disorder. The signs and symptoms can vary, but common manifestations include:
- **Coarse facial features**
- **Joint stiffness and limited range of motion**
- **Carpal tunnel syndrome**
- **Corneal clouding**
- **Hearing loss**
- **Heart valve abnormalities**
- **Mild skeletal abnormalities**
- **Mild cognitive impairment**
This syndrome is generally considered to be the mildest form of MPS I. Appropriate clinical assessment is necessary for diagnosis and management. - Prognosis
- Scheie syndrome, also known as Mucopolysaccharidosis type I S (MPS I S), is a lysosomal storage disease. The prognosis for individuals with Scheie syndrome varies, but it is generally better than for those with more severe forms of MPS I, such as Hurler syndrome. Patients with Scheie syndrome often lead longer lives, possibly into adulthood, but still may experience significant health issues, including joint stiffness, cardiovascular problems, and vision impairment. Early diagnosis and management can improve the quality of life, but there is currently no cure. Treatment focuses on managing symptoms and may include enzyme replacement therapy and supportive care. Life expectancy may be near normal with proper medical care.
- Onset
- Scheie syndrome, also known as MPS I-S (mucopolysaccharidosis type I-S), typically has an onset in late childhood or early adolescence. It is a milder form of MPS I and presents with a slower progression compared to the more severe forms.
- Prevalence
- The prevalence of Scheie syndrome, also known as Mucopolysaccharidosis type I-S (MPS I-S), is estimated to be between 1 in 500,000 to 1 in 1,000,000 live births.
- Epidemiology
- Scheie syndrome, also known as mucopolysaccharidosis type I S (MPS I S), is a rare genetic disorder. It affects approximately 1 in 500,000 to 1 in 1,000,000 individuals. The disease is caused by mutations in the IDUA gene, leading to a deficiency of the enzyme alpha-L-iduronidase. This enzyme deficiency results in the accumulation of glycosaminoglycans in various tissues, causing a range of symptoms that can include joint stiffness, heart valve abnormalities, and corneal clouding. The syndrome typically manifests in late childhood or early adulthood and is less severe compared to other forms of MPS I.
- Intractability
- Scheie syndrome, also known as Mucopolysaccharidosis type I-S (MPS I-S), is a less severe form of MPS I. The disease can present significant challenges in management due to its chronic and progressive nature. While there are treatments available, such as enzyme replacement therapy and hematopoietic stem cell transplantation, these do not cure the disease but can help manage symptoms and improve the quality of life. Therefore, while not entirely intractable, it remains a serious, lifelong condition that requires ongoing medical care.
- Disease Severity
- Scheie syndrome, also known as mucopolysaccharidosis type IS (MPS IS), is generally considered to be a less severe form of mucopolysaccharidosis type I. Disease severity can vary, but individuals with Scheie syndrome often have normal intelligence and a longer life expectancy compared to other forms of MPS I. Symptoms typically include joint stiffness, heart valve disease, and corneal clouding, which can affect quality of life but do not typically result in severe disability or early mortality.
- Healthcare Professionals
- Disease Ontology ID - DOID:0060222
- Pathophysiology
- Scheie Syndrome, also known as Mucopolysaccharidosis type I-S (MPS I-S), is a lysosomal storage disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This enzyme is crucial for the degradation of glycosaminoglycans (GAGs) such as dermatan sulfate and heparan sulfate. The lack of alpha-L-iduronidase activity leads to the accumulation of GAGs in various tissues and organs, causing the clinical manifestations of the disease.
- Carrier Status
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Scheie syndrome, also known as mucopolysaccharidosis type IS (MPS IS), is an inherited disorder caused by a deficiency of the enzyme alpha-L-iduronidase. It is inherited in an autosomal recessive manner. This means that a person must inherit two copies of the defective gene (one from each parent) to exhibit the disease.
Carrier status: Individuals who have only one copy of the mutated gene are considered carriers. Carriers typically do not show symptoms of Scheie syndrome but can pass the mutated gene to their offspring. If two carriers have a child, there is a 25% chance that the child will have Scheie syndrome, a 50% chance that the child will be a carrier, and a 25% chance that the child will have two normal copies of the gene. - Mechanism
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Scheie syndrome, also known as Mucopolysaccharidosis type I S (MPS I S), is a lesser form of Mucopolysaccharidosis type I. It is caused by a deficiency in the enzyme alpha-L-iduronidase. This enzyme is responsible for breaking down glycosaminoglycans (GAGs, formerly known as mucopolysaccharides).
Mechanism:
The deficiency in alpha-L-iduronidase leads to the accumulation of partially degraded glycosaminoglycans, specifically dermatan sulfate and heparan sulfate, within lysosomes. These accumulations disrupt normal cellular function.
Molecular Mechanisms:
- Alpha-L-iduronidase deficiency is typically caused by mutations in the IDUA gene located on chromosome 4.
- These mutations result in a defective enzyme that has reduced or no activity.
- The impaired breakdown of GAGs leads to their accumulation in various tissues, causing symptoms in multiple organ systems, including the heart, eyes, joints, and respiratory system.
Overall, the accumulation of GAGs leads to progressive cellular and tissue damage, manifesting in the clinical symptoms associated with Scheie syndrome. - Treatment
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Treatment for Scheie syndrome typically focuses on managing symptoms and improving quality of life, as there is no cure. Options may include:
- Enzyme replacement therapy (ERT) to supplement deficient enzymes.
- Surgical interventions, such as corneal transplants for eye issues or cardiac surgery for heart problems.
- Physical therapy to improve mobility and manage joint stiffness.
- Pain management strategies.
- Regular monitoring by a multidisciplinary team to address various complications. - Compassionate Use Treatment
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Scheie syndrome, also known as Mucopolysaccharidosis Type I S (MPS I S), is a rare genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase. Though there is limited specific information regarding compassionate use, off-label, or experimental treatments for Scheie syndrome, options may include:
1. **Enzyme Replacement Therapy (ERT):** Laronidase (Aldurazyme) is approved for MPS I and may be used off-label or under compassionate use for treating Scheie syndrome.
2. **Hematopoietic Stem Cell Transplantation (HSCT):** Though primarily used for more severe forms of MPS I, HSCT may be considered on a case-by-case basis.
3. **Gene Therapy:** Experimental gene therapy approaches are under investigation and may become available through clinical trials.
4. **Substrate Reduction Therapy (SRT):** While not currently approved for Scheie syndrome, ongoing research may provide new insights into off-label or experimental uses.
Patients should consult healthcare professionals for personalized treatment plans and information on accessing these therapies through compassionate use programs or clinical trials. - Lifestyle Recommendations
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Scheie syndrome, also known as mucopolysaccharidosis type I-S (MPS I-S), is a rare genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This deficiency leads to the accumulation of glycosaminoglycans in the body, causing various symptoms.
### Lifestyle Recommendations:
1. **Regular Medical Follow-Up:** Regular visits to specialists such as geneticists, orthopedists, cardiologists, and ophthalmologists are important for monitoring and managing symptoms.
2. **Physical Activity:** Engage in low-impact physical activities to maintain joint mobility and overall health. Swimming is often recommended due to minimal joint stress.
3. **Diet and Nutrition:** Maintain a balanced diet to support overall health. Proper nutrition is essential, but no specific diet alters the progression of the syndrome.
4. **Pain Management:** Work with healthcare providers to manage pain, which can be a significant issue due to joint stiffness and other complications.
5. **Occupational Therapy:** Occupational therapy can help improve daily function and adapt the living environment to the patient's needs.
6. **Respiratory Care:** Regular respiratory assessments and treatments may be necessary, as respiratory complications can occur.
7. **Heart Health:** Monitor cardiovascular health closely, as heart valve issues and other cardiac concerns can be a part of the syndrome.
8. **Eye Care:** Regular eye examinations are crucial due to potential corneal clouding and other ocular issues.
9. **Support Groups:** Joining support groups and connecting with other families affected by MPS I-S can provide emotional support and practical advice.
It's important to tailor these recommendations to individual needs and work closely with a healthcare team familiar with Scheie syndrome. - Medication
- Scheie syndrome, also known as Mucopolysaccharidosis Type I S (MPS I S), is a rare genetic disorder. For managing Scheie syndrome, enzyme replacement therapy (ERT) with laronidase (Aldurazyme) is often used. This medication helps break down glycosaminoglycans, which accumulate in patients with this condition. Pain management and physical therapies may also be incorporated into treatment plans. Always consult with a healthcare provider for personalized treatment recommendations.
- Repurposable Drugs
- Scheie syndrome, also known as Mucopolysaccharidosis Type I-S (MPS I-S), is a rare genetic disorder. Currently, no specific repurposable drugs are widely recognized for Scheie syndrome. However, treatments like enzyme replacement therapy (ERT) with laronidase have been used to manage symptoms. Research in repurposing other existing drugs for treating these kinds of lysosomal storage disorders is ongoing. Always consult a healthcare professional for the most current treatment options.
- Metabolites
- Scheie syndrome, also known as Mucopolysaccharidosis type I-S (MPS I-S), is characterized by the accumulation of glycosaminoglycans (GAGs) due to a deficiency in the enzyme alpha-L-iduronidase. The primary metabolites that accumulate in this condition are dermatan sulfate and heparan sulfate.
- Nutraceuticals
- Scheie syndrome, also known as Mucopolysaccharidosis type I S (MPS I S), is a genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase. Currently, there are no specific nutraceuticals (dietary supplements that provide health benefits) that are recommended for the treatment or management of Scheie syndrome. The primary treatment approaches typically involve enzyme replacement therapy (ERT) and potential supportive care to manage symptoms and improve quality of life. Always consult healthcare professionals for customized medical advice.
- Peptides
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Scheie syndrome, also known as mucopolysaccharidosis type I-S (MPS I-S), is a genetic disorder caused by the deficiency of the enzyme alpha-L-iduronidase. This leads to the accumulation of glycosaminoglycans in various tissues.
Regarding peptides, while Scheie syndrome is not primarily related to peptide abnormalities, the deficiency of enzyme alpha-L-iduronidase affects the breakdown of complex carbohydrates, and enzyme replacement therapy (ERT) with synthetic enzymes is sometimes used as a treatment approach.
In terms of nanotechnology (nan), there are ongoing research and experimental treatments exploring the use of nanoparticles for drug delivery systems to potentially enhance the effectiveness of current therapies, such as enzyme replacement therapy or gene therapy. However, these approaches are still in development stages and are not yet standard treatments.