title: Adult bile acid amino transferase deficiency.
abstract: METHODS
  Female, 70 FINAL DIAGNOSIS: Bile acid amino transferase deficiency Symptoms: Headache • indigestion • itching skin • nausea • vomiting
  
  
  METHODS
  - 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.
  
  
  METHODS
  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.
authors.affiliation: Medical Affairs, Genova Diagnostics, Inc., Asheville, NC, U.S.A.
authors.forename: Richard S
authors.initials: RS
authors.lastname: Lord
authors.affiliation: Mind and Motion, Psychological Sciences Institute, Johns Creek City, GA, U.S.A.
authors.forename: Daniel M
authors.initials: DM
authors.lastname: Tuttle
authors.affiliation: Mind and Motion, Psychological Sciences Institute, Johns Creek City, GA, U.S.A.
authors.forename: David S
authors.initials: DS
authors.lastname: Cantor
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