Inborn Errors of Bile Acid Metabolism.

James E Heubi, Kenneth D R Setchell, Kevin E Bove

Journal: Clinics in liver disease 2019;22(4):671-687

PMID: 30266156

Full Text on Elsevier Science View on PubMed

Abstract

Inborn errors of bile acid metabolism are rare causes of neonatal cholestasis and liver disease in older children and adults. The diagnosis should be considered in the context of hyperbilirubinemia with normal serum bile acids and made by urinary liquid secondary ionization mass spectrometry or DNA testing. Cholic acid is an effective treatment of most single-enzyme defects and patients with Zellweger spectrum disorder with liver disease.

Address: Division of Pediatric Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 240 Sabin Way, Cincinnati, OH 45229, USA; Division of Pathology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 240 Sabin Way, Cincinnati, OH 45229, USA. Electronic address: [email protected].; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 240 Sabin Way, Cincinnati, OH 45229, USA; Division of Pathology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 240 Sabin Way, Cincinnati, OH 45229, USA.

DOI: 10.1016/j.cld.2018.06.006

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MeSH Terms: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Acyl-CoA Oxidase, Adrenal Hyperplasia, Congenital, Amino-Acid N-Acetyltransferase, Bile Acids and Salts, Cholestasis, Cholic Acid, Genetic Testing, Humans, Liver Diseases, Metabolism, Inborn Errors, Racemases and Epimerases, Steroid Hydroxylases, Xanthomatosis, Cerebrotendinous