Adult bile acid amino transferase deficiency

Adult bile acid amino transferase deficiency

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 progress...

Deficiency of Capicua disrupts bile acid homeostasis

Capicua (CIC) has been implicated in pathogenesis of spinocerebellar ataxia type 1 and cancer in mammals; however, the in vivo physiological functions of CIC remain largely unknown. Here we show that Cic hypomorphic (Cic-L(-/-)) mice have impaired bile acid (BA) homeostasis associated with induction of proinflammatory cytokines. We discovered that several drug metabolism and BA transporter gene...

Farnesoid X receptor regulates bile acid-amino acid conjugation.

The farnesoid X receptor (FXR; NR1H4) regulates bile acid and lipid homeostasis by acting as an intracellular bile acid-sensing transcription factor. Several identified FXR target genes serve critical roles in the synthesis and transport of bile acids as well as in lipid metabolism. Here we used Affymetrix micro-array and Northern analysis to demonstrate that two enzymes involved in conjugation...

Amino acid incorporation and biotin deficiency.

Biotin deficiency in chicks has been reported to result in a marked decrease in the synthesis of albumin and in the activity of amylase (3). Kritsman, Konikova, and Yukhnovskaya (4) observed that the incorporation of methionine-S3s into the proteins of biotin-deficient rats was reduced as compared to the normal animals. Studies in vitro gave similar results; also, the addition of biotin to the ...

Amphibian embryo glutathione transferase: amino acid sequence and structural properties.