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Updated: May 2, 2026

Using Multi-fluorinated Bile Acids and In Vivo Magnetic Resonance Imaging to Measure Bile Acid Transport
Published on: November 27, 2016
Adult bile acid amino transferase deficiency
Richard S Lord1, Daniel M Tuttle2, David S Cantor2
1Medical Affairs, Genova Diagnostics, Inc., Asheville, NC, U.S.A.
Patient:
Female, 70 FINAL DIAGNOSIS: Bile acid amino transferase deficiency Symptoms: Headache • indigestion • itching skin • nausea • vomiting
Medication:
- Clinical Procedure: - Specialty: Gastroenterology and Hepatology.
Objective:
Challenging differential diagnosis.
Background:
Bile acid synthesis impairments are difficult to diagnose due to non-specific manifestations related to progressive failure to absorb essential fatty acids and fat soluble vitamins and failure to maintain normal intestinal microbiota.
Case Report:
A 70-year-old female presented with long-standing history of recurrent headaches, indigestion, dry, scaly, itching skin, and fluid around knee joints. Quantitative Electroencephalography (QEEG) revealed widespread excess theta maximum in the temporal regions. A rare pattern of elevated plasma glycine and taurine led to suspicion of BAATD. A stool profile employing molecular probes for commensal bacteria revealed elevation of Fusobacteria spp. Implementation of bile acid replacement therapy (BART) produced rapid remission of headache and other symptoms and a three-month follow up stool profile revealed normalization of fecal Fusobacteria populations that remained normal after one year of BART. QEEG analyses 4 weeks following BART showed evidence of significant improvement in CNS functioning.
Conclusions:
This case illustrates the potential for diagnosis of latent, adult BAATD by finding a unique pattern of plasma amino acids and monitoring of therapy by observing normalization of fecal commensal bacteria and functional brain assessments.
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