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Clin Liver Dis. 2018 Nov;22(4):671-687. doi: 10.1016/j.cld.2018.06.006. Epub 2018 Aug 22.

Inborn Errors of Bile Acid Metabolism.

Author information

1
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: james.heubi@cchmc.org.
2
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.

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.

KEYWORDS:

Cirrhosis; Liver; Neonatal cholestasis; Zellweger spectrum disorder

PMID:
30266156
DOI:
10.1016/j.cld.2018.06.006
[Indexed for MEDLINE]

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