Inborn Errors of Metabolism: Liver.

Authors

Kayla Hartjes, Nanda Kerkar

Published in

Gastroenterology clinics of North America. Volume 55. Issue 4. Pages 721-739. Epub Jul 07, 2026.

Abstract

Inborn errors of metabolism comprise monogenic disorders, affecting a metabolic pathway, resulting in a deficiency or excess of a specific metabolite. In bile acid transport defects, apical bile salt uptake inhibitors have revolutionized care. Alpha-1 antitrypsin deficiency and key disorders of carbohydrate, fat, and protein metabolism are summarized. Until gene therapy, transplantation is the option when medical treatment fails.

PMID:
42933943
Bibliographic data and abstract were imported from PubMed on 27 Oct 2026.

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