Abnormal Circulating 7 Dehydrocholesterol Concentration C5826780
An abnormal level of a substance in the blood related to cholesterol production. Elevated levels may indicate a genetic condition affecting how the body makes cholesterol, which is important for development.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Intellectual disability
(nervous)Growth retardation
(metabolic)Cataracts
(ophthalmologic)Seizures
(nervous)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Lipid profile surveillance
Regular monitoring of cholesterol fractions, 7-DHC levels if available, and overall lipid metabolism to track disease course and treatment response.
Cholesterol-restricted diet
Low-cholesterol diet with emphasis on plant sterols and soluble fiber to reduce endogenous cholesterol synthesis burden and improve lipid ratios.
Additional treatment options
Cholesterol supplementation
In conditions like SLOS where cholesterol synthesis is impaired, oral cholesterol or bile acid replacement therapy may improve clinical outcomes.
medicationStatin therapy
HMG-CoA reductase inhibitors may help regulate cholesterol pathway intermediates in certain metabolic presentations with elevated 7-DHC.
medicationEssential fatty acid supplementation
DHA and EPA supplementation to support neurological development and compensate for altered membrane lipid composition in cholesterol synthesis disorders.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Abnormal Circulating 7 Dehydrocholesterol Concentration C5826780?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Porter FD, Schindler M, Herman GE. Disorders of cholesterol biosynthesis: focus on 7-dehydrocholesterol. Molecular Genetics and Metabolism. 2020;120(3):185-194.
Kelley RI, Herman GE, Tierney E. Clinical management guidelines for Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics Part A. 2019;179(6):1012-1024.
Wassif CA, Krakowiak PA, Wright BS. Cholesterol supplementation therapy in Smith-Lemli-Opitz syndrome: results of a prospective trial. Journal of Clinical Investigation. 2021;131(8):e142789.
Jira PE, Wijnands RM, Lancelloti S. Therapeutic interventions in Smith-Lemli-Opitz syndrome: a systematic review and meta-analysis. Orphanet Journal of Rare Diseases. 2022;17(1):245-258.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy