Adult bile acid amino transferase deficiency

Abstract

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.

Keywords: bile acid amino transferase; bile acid replacement therapy; chronic intractable headache; dry, scaly skin; fecal microbes; indigestion; intestinal dysbiosis; plasma glycine; plasma taurine; quantitative electroencephalography.

Figure 1

QEEG brainwave activity Z-scored for age and absolute power. Approximately 2 minutes of artifact free EEG was used to derive the absolute power for total power, delta (1–3.5 Hz), theta (3.6–7.5 Hz), alpha (7.6–12.5 Hz), beta (12.6–25 Hz), and beta2 (25.1–35 Hz). The −3.0 to 3.0 color scale indicates Z-scores (standard deviations) away from age-adjusted normal absolute power of the EEG brainwave activity. Areas of excessive brainwave power in each frequency band are colored yellow, orange and red, and blue and green areas indicate reduced activity. The color black indicates normal activity. (A) Brain map images 2 years before starting BART. (B) Brain map images 4 weeks after starting BART.

Figure 2

sLORETA maps of maximum and minimum activity (corrected for age). Two minutes of artifact free EEG was used to calculate Z-scores for the over 6,000 voxels of current density in the sLORETA calculations. Colors indicate brain regions showing significant increased (red) or decreased (blue) activity for age. (A) Images prior to starting BART showing probable sources for the maximum excess abnormality in the (7.35 Hz) theta band (top panel) and deficit activity in the (23.7 Hz) beta band (bottom panel). (B) Images 4 weeks after starting BART showing probable sources for the maximum excess activation in the (6.96 Hz) theta band (top panel) and maximum deactivation in the (24.51 Hz) beta band (bottom panel).