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.
Copyright © 2018 Elsevier Inc. All rights reserved.
MeSH terms
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3-Oxo-5-alpha-Steroid 4-Dehydrogenase / deficiency
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Acyl-CoA Oxidase / deficiency
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Adrenal Hyperplasia, Congenital / complications
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Adrenal Hyperplasia, Congenital / genetics
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Amino-Acid N-Acetyltransferase / deficiency
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Bile Acids and Salts / metabolism*
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Cholestasis / etiology*
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Cholic Acid / therapeutic use
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Genetic Testing
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Humans
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Liver Diseases / etiology*
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Liver Diseases / pathology
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Metabolism, Inborn Errors / complications
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Metabolism, Inborn Errors / diagnosis*
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Metabolism, Inborn Errors / drug therapy
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Metabolism, Inborn Errors / genetics*
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Racemases and Epimerases / deficiency
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Steroid Hydroxylases / deficiency
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Xanthomatosis, Cerebrotendinous / complications
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Xanthomatosis, Cerebrotendinous / genetics
Substances
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Bile Acids and Salts
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Steroid Hydroxylases
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oxysterol 7-alpha-hydroxylase
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Acyl-CoA Oxidase
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3-Oxo-5-alpha-Steroid 4-Dehydrogenase
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Amino-Acid N-Acetyltransferase
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Racemases and Epimerases
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alpha-methylacyl-CoA racemase
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Cholic Acid