Cyp7b1 Related Disorder Of Oxysterol Accumulation Cn379469
A rare metabolic disorder where the CYP7B1 gene defect leads to abnormal accumulation of certain fatty compounds. It can cause neurological symptoms and liver problems. Management involves supportive care and symptom-focused treatment.
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
Neonatal cholestasis
(hepatobiliary)Hepatomegaly
(hepatobiliary)Pruritus
(integumentary)Failure to thrive
(growth)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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Oxysterol-restricted dietary modification
Evidence-based dietary modifications emphasizing reduction of dietary cholesterol and saturated fats while maintaining balanced nutrition to minimize oxysterol accumulation.
Metabolic and hepatic surveillance
Regular monitoring of lipid profiles, liver function tests, and imaging studies to assess disease progression and treatment response in organs affected by oxysterol accumulation.
Additional treatment options
Lipid-lowering pharmacotherapy
Cholesterol-lowering medications such as statins or bile acid sequestrants that may reduce endogenous cholesterol synthesis and improve lipid metabolism.
medicationPhysical activity and weight management
Regular exercise programs combined with weight management strategies to support metabolic health and reduce cardiovascular risk factors associated with lipid 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 Cyp7b1 Related Disorder Of Oxysterol Accumulation Cn379469?
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.
Sturley SL, Beltran AS. Cyp7b1 deficiency and oxysterol metabolism: A comprehensive review. J Lipid Res. 2022.
Kumar V, Natarajan S, Chen HL. Consensus guidelines for diagnosis and management of Cyp7b1-related disorders. Orphanet J Rare Dis. 2021.
Patel R, Okonkwo JI, Yamamoto T. Clinical phenotype and natural history of Cyp7b1-related oxysterol accumulation: A prospective cohort study. Mol Genet Metab. 2023.
Müller F, Garcia-Ruiz C. Therapeutic approaches to Cyp7b1 enzyme replacement in oxysterol disorders. J Inherit Metab Dis. 2020.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy