congenital bile acid synthesis defect 1

Congenital bile acid synthesis defect 1 is a disorder affecting the liver's ability to properly synthesize bile acids, which are crucial for fat digestion. The condition is caused by pathogenic variants in the HSD3B7 gene, which encodes an enzyme important for bile acid production. It typically presents in infancy or early childhood with signs of cholestatic liver disease and problems with fat malabsorption. Because prevalence estimates are not well established, the rarity of the condition is described as unknown.

The clinical presentation of congenital bile acid synthesis defect 1 centers on liver dysfunction and impaired fat absorption. Characteristic findings include reduced C27 3β-hydroxy-Δ5-C27-steroid oxidoreductase activity observed in laboratory studies, and many affected individuals develop hepatomegaly, jaundice, and steatorrhea in varying degrees. Other features such as rickets, acholic stools, and splenomegaly may also be present, although less consistently. Not all individuals experience every feature, and severity varies considerably.

This condition is caused by pathogenic variants in the HSD3B7 gene. The HSD3B7 gene is responsible for encoding an enzyme that plays a key role in bile acid synthesis, and its dysfunction disrupts the normal production of bile acids, leading to cholestatic liver disease and fat malabsorption. It is inherited in an autosomal recessive pattern, meaning an affected individual has received one altered copy of the gene from each parent. Families are encouraged to seek genetic counseling to better understand inheritance and implications for future family planning.

Currently, management of congenital bile acid synthesis defect 1 focuses on supportive care and symptom management rather than specific treatments approved for the condition. Treatment strategies are tailored to each individual and typically involve a multidisciplinary team to address nutritional issues, liver function support, and complications related to fat malabsorption. Patients and families are advised to consult with their healthcare team and consider genetic counseling to review potential management strategies and long-term care plans.

The course of congenital bile acid synthesis defect 1 is highly variable, with outcomes depending on symptom severity, age at diagnosis, and access to specialized care. While many individuals experience significant challenges related to liver dysfunction and malabsorption, modern supportive care has improved overall quality of life and long‐term outlooks. Outcomes described in medical literature continue to evolve as treatment protocols and clinical management improve. Families are encouraged to connect with genetic counselors and specialist care centers to explore ongoing support and tailored monitoring strategies.

Clinical trials are underway exploring new treatment approaches for congenital bile acid synthesis defect 1. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team to learn more about eligibility and emerging therapies.