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

Bile acid conjugation defect 1

Summary

Bile acid conjugation defect-1 (BACD1) 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). See also familial hypercholanemia (FHCA; 607748), in which patients have increased serum bile levels of conjugated bile acids. [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, HCHO, BAAT
    Summary: bile acid-CoA:amino acid N-acyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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