Elevated Circulating 7-dehydrocholesterol Concentration
Disease Details
Family Health Simplified
- Description
- Elevated circulating 7-dehydrocholesterol concentration is a condition characterized by higher-than-normal levels of 7-dehydrocholesterol in the blood, often linked to defects in cholesterol biosynthesis. This can be associated with conditions like Smith-Lemli-Opitz syndrome, which is marked by intellectual disability, developmental delays, and physical abnormalities.
- Type
- Elevated circulating 7-dehydrocholesterol concentration is typically associated with Smith-Lemli-Opitz syndrome. This condition is inherited in an autosomal recessive manner.
- Signs And Symptoms
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Elevated circulating 7-dehydrocholesterol concentration can be associated with Smith-Lemli-Opitz syndrome (SLOS), a genetic disorder affecting cholesterol metabolism. Signs and symptoms may include:
- Intellectual disability
- Developmental delays
- Distinctive facial features (e.g., microcephaly, broad nasal bridge, upturned nostrils)
- Growth retardation
- Hypotonia (reduced muscle tone)
- Behavioral problems (e.g., hyperactivity, autism-like features)
- Congenital anomalies (e.g., polydactyly, heart defects, genital abnormalities)
These symptoms can vary in severity from mild to severe. - Prognosis
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For elevated circulating 7-dehydrocholesterol concentration:
Prognosis: Elevated levels of 7-dehydrocholesterol are typically associated with Smith-Lemli-Opitz syndrome (SLOS), a genetic disorder. The prognosis varies depending on the severity of the condition. Mild cases may involve minor physical abnormalities and developmental delays, while severe cases can present with significant physical malformations, intellectual disabilities, and life-threatening complications. Early diagnosis and supportive care can improve outcomes, but the condition is generally considered to be lifelong.
Treatment and management focus on addressing symptoms and improving quality of life. Genetic counseling is recommended for affected families. - Onset
- Elevated circulating 7-dehydrocholesterol concentration is typically associated with Smith-Lemli-Opitz syndrome (SLOS). The onset of this condition is congenital, meaning it is present from birth.
- Prevalence
- Prevalence: Elevated circulating 7-dehydrocholesterol concentration is primarily associated with Smith-Lemli-Opitz syndrome (SLOS), a rare genetic disorder. The prevalence of SLOS is estimated to be about 1 in 20,000 to 1 in 60,000 live births.
- Epidemiology
- Elevated circulating 7-dehydrocholesterol concentration is typically associated with Smith-Lemli-Opitz Syndrome (SLOS), a rare genetic disorder. SLOS is an autosomal recessive condition caused by mutations in the DHCR7 gene, which encodes the enzyme 7-dehydrocholesterol reductase. The incidence of SLOS is estimated to be around 1 in 20,000 to 1 in 60,000 live births. This disorder is more commonly diagnosed in populations of European descent. There is no specific data on the prevalence of elevated circulating 7-dehydrocholesterol concentration in the general population outside of this syndrome.
- Intractability
- Elevated circulating 7-dehydrocholesterol concentration is primarily associated with Smith-Lemli-Opitz syndrome (SLOS), a genetic disorder caused by mutations in the DHCR7 gene. This condition affects cholesterol metabolism. While there is no cure for SLOS, the disease is not entirely intractable. Management approaches, such as dietary cholesterol supplementation and supportive therapies for developmental and behavioral issues, can help improve quality of life and mitigate some symptoms. Early intervention and a multidisciplinary approach are crucial in managing the condition effectively.
- Disease Severity
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Elevated circulating 7-dehydrocholesterol concentration is primarily associated with Smith-Lemli-Opitz Syndrome (SLOS). This condition can vary in severity:
- Mild to Moderate: Individuals may present with developmental delays, intellectual disabilities, and some physical anomalies.
- Severe: Can involve significant congenital anomalies, profound intellectual disability, and potentially life-threatening complications, such as severe heart defects or respiratory issues.
Severity often correlates with the degree of enzyme deficiency and the extent of cholesterol synthesis disruption. Regular monitoring and supportive care are crucial in managing the condition. - Pathophysiology
- Elevated circulating 7-dehydrocholesterol concentration is commonly associated with Smith-Lemli-Opitz syndrome (SLOS), a genetic disorder. The pathophysiology involves a deficiency in the enzyme 7-dehydrocholesterol reductase, which is critical for the conversion of 7-dehydrocholesterol to cholesterol. This leads to an accumulation of 7-dehydrocholesterol and a deficiency in cholesterol, disrupting numerous biological processes including cell membrane structure, steroid synthesis, and embryonic development, manifesting in various physical, developmental, and behavioral abnormalities.
- Carrier Status
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Elevated circulating 7-dehydrocholesterol concentration is primarily associated with Smith-Lemli-Opitz syndrome (SLOS), a genetic disorder.
### Carrier Status:
- Smith-Lemli-Opitz syndrome is inherited in an autosomal recessive manner.
- Carriers (individuals with one mutated copy of the DHCR7 gene) typically do not show symptoms but can pass the mutated gene to their offspring.
If specific carrier status information is required beyond this context or clinical advice is needed, consulting genetic testing results or a healthcare provider is recommended. - Mechanism
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Elevated circulating 7-dehydrocholesterol concentrations can be associated with metabolic disorders such as Smith-Lemli-Opitz syndrome (SLOS). The molecular mechanisms underlying elevated 7-dehydrocholesterol typically involve a defect in the enzyme 7-dehydrocholesterol reductase (DHCR7).
1. **Mechanism**: DHCR7 is responsible for converting 7-dehydrocholesterol to cholesterol in the final step of cholesterol biosynthesis. A deficiency or malfunction of DHCR7 leads to an accumulation of 7-dehydrocholesterol and reduced cholesterol levels.
2. **Molecular Mechanisms**: The DHCR7 gene mutations result in either complete loss or reduced activity of the DHCR7 enzyme. This causes a metabolic bottleneck, leading to the accumulation of 7-dehydrocholesterol. As cholesterol is a critical component in cell membranes, precursors for steroid hormones, and other biological molecules, the imbalance can result in multiple physiological and developmental issues, characteristic of SLOS.
Overall, the elevated 7-dehydrocholesterol concentrations and the associated clinical symptoms can be directly linked to the impaired activity of the DHCR7 enzyme due to genetic mutations. - Treatment
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The condition "elevated circulating 7-dehydrocholesterol concentration" refers to an abnormally high level of 7-dehydrocholesterol in the blood. This is often associated with a rare genetic disorder called Smith-Lemli-Opitz syndrome (SLOS).
### Treatment:
1. **Cholesterol Supplementation:**
- Oral cholesterol supplementation is commonly provided to help compensate for the deficiency in cholesterol synthesis.
2. **Dietary Modifications:**
- A diet high in cholesterol can help manage symptoms and support normal development, especially in children.
3. **HMG-CoA Reductase Inhibitors:**
- Medications like statins may be used to reduce the intermediate metabolites and manage the condition.
4. **Supportive Therapies:**
- Physical therapy, speech therapy, and occupational therapy are often necessary for developmental support.
5. **Monitoring and Regular Check-ups:**
- Regular monitoring of cholesterol levels and medical follow-up to adjust treatment as necessary.
6. **Genetic Counseling:**
- Recommended for families to understand the inheritance pattern and implications for future pregnancies.
Always consult healthcare professionals for personalized medical advice and treatment plans. - Compassionate Use Treatment
- Elevated circulating 7-dehydrocholesterol concentration is typically associated with Smith-Lemli-Opitz syndrome (SLOS). For compassionate use or off-label treatments, doctors may consider cholesterol supplementation, as this can help mitigate some symptoms of SLOS by providing an external source of cholesterol. Additionally, simvastatin, a statin medication, has been used experimentally to reduce 7-dehydrocholesterol levels by inhibiting the enzyme HMG-CoA reductase, though this is not an approved treatment and carries potential risks. It's important to consult with a healthcare provider to determine appropriate treatment options for this condition.
- Lifestyle Recommendations
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Elevated circulating 7-dehydrocholesterol concentration is often associated with conditions such as Smith-Lemli-Opitz Syndrome (SLOS). While the management of this condition primarily involves medical interventions, certain lifestyle recommendations may be beneficial:
1. **Dietary Adjustments**:
- **Cholesterol Supplementation**: Since individuals with SLOS have impaired cholesterol synthesis, a diet supplemented with cholesterol may help.
- **Avoid Sterol-rich Foods**: Phytosterols can compete with cholesterol absorption, so limiting foods high in plant sterols might be advised.
2. **Regular Monitoring**: Regular blood tests to monitor cholesterol levels and 7-dehydrocholesterol concentration can help manage the condition effectively.
3. **Sun Exposure**: Safe, moderate sun exposure to aid in vitamin D synthesis can be beneficial, as long as it’s balanced with the risk of skin damage.
4. **Healthcare Coordination**: Regular consultations with healthcare providers, including geneticists, dietitians, and other specialists, to tailor the management plan.
5. **Mental and Physical Support**: Support services, including physical and occupational therapy, may be required to manage developmental delays or other complications of SLOS.
Always consult healthcare professionals for personalized advice and treatment plans. - Medication
- For elevated circulating 7-dehydrocholesterol concentration, one potential treatment is the administration of cholesterol supplementation, often in conjunction with dietary management. This condition is commonly associated with Smith-Lemli-Opitz syndrome. Medications that may be prescribed can include statins under careful medical supervision to manage cholesterol levels. No specific "nan" medication is directly related to this condition. Always consult a healthcare provider for appropriate diagnosis and treatment options tailored to individual cases.
- Repurposable Drugs
- Elevated circulating 7-dehydrocholesterol concentration is typically associated with Smith-Lemli-Opitz syndrome (SLOS), a genetic disorder that affects cholesterol biosynthesis. One commonly discussed repurposable drug for managing this condition is simvastatin, a statin typically used to lower cholesterol. Evidence suggests it may help reduce 7-dehydrocholesterol levels and mitigate some symptoms of SLOS. However, the use of repurposed drugs should always be conducted under the supervision of a healthcare professional.
- Metabolites
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Elevated circulating 7-dehydrocholesterol concentration is associated with Smith-Lemli-Opitz syndrome (SLOS). In this condition, the primary metabolic abnormality involves a deficiency in the enzyme 7-dehydrocholesterol reductase. This leads to increased levels of 7-dehydrocholesterol and decreased levels of cholesterol. Metabolites involved include:
1. **7-Dehydrocholesterol**: Elevated in SLOS.
2. **Cholesterol**: Reduced in SLOS due to impaired conversion from 7-dehydrocholesterol.
Other intermediary metabolites might include various sterols in the cholesterol biosynthesis pathway. - Nutraceuticals
- Elevated circulating 7-dehydrocholesterol concentration is a marker of Smith-Lemli-Opitz syndrome (SLOS), a genetic disorder affecting cholesterol synthesis. There is limited information on the use of specific nutraceuticals to manage this condition directly. Management typically involves dietary cholesterol supplementation and supportive care to address symptoms. Consulting a healthcare provider for a comprehensive treatment plan is advised.
- Peptides
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Elevated circulating 7-dehydrocholesterol concentration is typically associated with Smith-Lemli-Opitz syndrome (SLOS), a genetic disorder affecting cholesterol biosynthesis. This condition is caused by mutations in the DHCR7 gene, which encodes 7-dehydrocholesterol reductase, an enzyme crucial for converting 7-dehydrocholesterol to cholesterol.
Regarding peptides, SLOS is not directly related to issues with peptide levels but rather with cholesterol and its precursors. Pharmacological treatment may include cholesterol supplementation and potentially inhibitors of 7-dehydrocholesterol production.
The term "nan" typically refers to "nanomolar," a unit of measurement for concentration. In the context of SLOS, 7-dehydrocholesterol levels might be measured in nanomolar concentrations to assess the severity of the disease and monitor treatment efficacy.