Related Experiment Video

Updated: Jan 29, 2026

Using Multi-fluorinated Bile Acids and In Vivo Magnetic Resonance Imaging to Measure Bile Acid Transport
08:42

Using Multi-fluorinated Bile Acids and In Vivo Magnetic Resonance Imaging to Measure Bile Acid Transport

Published on: November 27, 2016

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Bile Acid Synthesis Defect and Hyperinsulinism

Michael Rogers1, Francisco Sylvester1, Steven Lichtman1

  • 1Department of Pediatric Gastroenterology, University of North Carolina Children's Hospital, Chapel Hill, NC.

ACG Case Reports Journal
|February 19, 2019
PubMed

Insights

Rare bile acid synthesis defects can cause liver failure in infants. This case highlights a potential link between this liver dysfunction and prolonged neonatal hyperinsulism (PNH), suggesting PNH may arise from cholestatic stress.

Area of Science:

  • Biochemistry
  • Pediatric Gastroenterology
  • Neonatology

Background:

  • Congenital defects in bile acid synthesis (BASD) are rare genetic disorders.
  • These defects lead to progressive liver dysfunction and failure.
  • Prolonged neonatal hyperinsulism (PNH) is a distinct condition characterized by persistent hypoglycemia due to stress.

Observation:

  • A 4-month-old infant presented with severe liver failure attributed to a bile acid synthesis defect.
  • The infant also developed prolonged neonatal hyperinsulism (PNH).
  • Liver failure symptoms resolved with oral cholic acid treatment.

Findings:

  • Treatment with oral cholic acid successfully resolved the infant's liver failure.
  • The prolonged neonatal hyperinsulism (PNH) observed in the infant resolved gradually over time.
  • This case suggests a potential association between cholestatic liver failure and the development of PNH.

Implications:

  • The findings suggest that cholestatic liver failure may act as a specific stressor contributing to the development of PNH.
  • Understanding this relationship could help identify infants at higher risk for PNH.
  • Further research into the interplay between liver dysfunction and metabolic stress in neonates is warranted.

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