U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Bile acid conjugation defect 1

Bile acid conjugation defect 1

Synonyms
HYPERCHOLANEMIA, FAMILIAL 3

Summary

Familial hypercholanemia-3 (FHCA3) is an autosomal recessive metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy. The clinical features of the disorder result from impaired absorption of fat-soluble vitamins. Vitamin D deficiency causes rickets with variable growth deficiency, and vitamin K deficiency causes a coagulopathy with decreased production of vitamin K-dependent clotting factors. More variable features may include pruritis, anemia, hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory studies show abnormally increased levels of unconjugated bile acids (summary by Setchell et al., 2013). For a discussion of genetic heterogeneity of FHCA, see FHCA1 (607748). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BACAT, BACD1, BAT, FHCA3, HCHO, BAAT
    Summary: bile acid-CoA:amino acid N-acyltransferase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.