congenital bile acid synthesis defect 6

Congenital bile acid synthesis defect 6 is a metabolic condition characterized by abnormalities in bile acid synthesis due to mutations in the ACOX2 gene. It typically presents in infancy with signs of liver dysfunction alongside neurological features such as developmental delays and mild intellectual disability. Although specific prevalence data are not available, the condition is recognized as rare. Early clinical evaluation and genetic testing are key to identifying the disorder and instituting appropriate supportive care.

Affected individuals consistently exhibit elevated liver enzymes, including alanine and aspartate aminotransferases, as well as decreased circulating vitamin D levels. Neurological and developmental features are prominent, with all patients showing delayed speech and language development, mild intellectual disability, and global developmental delay. Additionally, characteristics such as vertical supranuclear gaze palsy, dysmetria, gait ataxia, and slurred speech are always present, while gastrointestinal issues like steatorrhea and hypolipidemia may also be observed. Not all individuals experience all features, and severity varies considerably.

The condition is caused by pathogenic variants in the ACOX2 gene, which plays an important role in the process of bile acid synthesis. It is inherited in an autosomal recessive pattern, meaning that an affected individual inherits two mutated copies of the gene, one from each parent. This inheritance pattern highlights the importance of genetic counseling for families, as it can provide guidance on recurrence risks in future pregnancies.

Currently, management focuses on supportive care and symptom management. Treatment is tailored to the individual and typically involves a multidisciplinary team to address both liver-related and neurological issues. Regular monitoring of liver function, developmental progress, and motor coordination is an essential component of care. In addition, genetic counseling is recommended to help families understand treatment options and the implications of the autosomal recessive inheritance pattern.

Outcomes vary depending on symptom severity, age at diagnosis, and access to specialized care. With current standards of care, many individuals experience periods of stabilization in their neurological and hepatic symptoms, although the course may differ among affected individuals. It is a lifelong condition, and outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition and to seek genetic counseling for ongoing guidance.

Clinical trials are underway exploring new treatment approaches for congenital bile acid synthesis defect 6. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.