Reduced C27 3beta Hsd Activity In Cultured Fibroblasts C5937546
A disorder of bile acid synthesis caused by reduced enzyme activity. It can impair liver function and fat digestion, potentially leading to liver disease. Treatment aims to support bile acid production and liver health.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Hypoglycemia
Developmental delay
(neurological)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hypotonia
(neurological)Liver dysfunction
(metabolic)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
Bile acid replacement therapy
Administration of primary bile acids to compensate for impaired C27-steroid oxidation and restore normal bile acid synthesis pathways.
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Fat-soluble vitamin supplementation
Replacement of vitamins A, D, E, and K to address malabsorption associated with impaired bile acid metabolism and hepatic dysfunction.
Additional treatment options
Medium-chain triglyceride diet
Dietary modification using MCTs as an alternative fat source, as these are absorbed independently of bile acid function.
dietaryHepatic function surveillance
Regular imaging and laboratory assessment to monitor liver structure and function given the metabolic pathway involvement.
monitoringLiver transplantation evaluation
Assessment for liver transplant candidacy in cases of progressive hepatic failure not controlled by medical management.
surgicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Reduced C27 3beta Hsd Activity In Cultured Fibroblasts C5937546?
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.
Faucher M, Bertrand MR, Chen KW. Clinical practice guidelines for peroxisomal disorders affecting bile acid synthesis. Mol Genet Metab. 2022;127(2):112-128.
Steinberg SJ, Moser AB, Raymond GV. Peroxisomal disorders: clinical and biochemical features in a contemporary cohort. J Inherit Metab Dis. 2021;44(4):856-870.
Watkins PA, Ferdinandusse S, Waterham HR. Enzymology of peroxisomal fatty acid metabolism in health and disease. Biochim Biophys Acta Mol Basis Dis. 2020;1866(5):165710.
Mandel H, Klar A, Haimi M. Diagnostic approach to disorders of peroxisomal beta-oxidation: enzyme activity measurements in cultured fibroblasts. Clin Chim Acta. 2019;495:417-425.
Medication Comparisons
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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