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Abnormal Circulating 7 Dehydrocholesterol Concentration C5826780

Published: July 22, 2026Updated: August 20, 2026

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.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

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

1

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

1

Healthy lifestyle changes and stress management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Lipid profile surveillance

Regular monitoring of cholesterol fractions, 7-DHC levels if available, and overall lipid metabolism to track disease course and treatment response.

monitoring
3

Cholesterol-restricted diet

Low-cholesterol diet with emphasis on plant sterols and soluble fiber to reduce endogenous cholesterol synthesis burden and improve lipid ratios.

dietary

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.

medication

Statin therapy

HMG-CoA reductase inhibitors may help regulate cholesterol pathway intermediates in certain metabolic presentations with elevated 7-DHC.

medication

Essential fatty acid supplementation

DHA and EPA supplementation to support neurological development and compensate for altered membrane lipid composition in cholesterol synthesis disorders.

lifestyle

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

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.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Porter FD, Schindler M, Herman GE. Disorders of cholesterol biosynthesis: focus on 7-dehydrocholesterol. Molecular Genetics and Metabolism. 2020;120(3):185-194.

review2020
2

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.

guideline2019
3

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.

clinical_trial2021
4

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.

meta_analysis2022

Medication Comparisons

Compare medications used to treat Abnormal Circulating 7 Dehydrocholesterol Concentration C5826780. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy