Case Report: Atypical hepatobiliary manifestations associated with erythrocyte membrane instability in glucose transporter type 1 deficiency syndrome - Takeaways - MDSpire

Case Report: Atypical hepatobiliary manifestations associated with erythrocyte membrane instability in glucose transporter type 1 deficiency syndrome

  • By

  • Hahnbie Lee

  • Sook Won Ryu

  • Jeana Hong

  • May 20, 2026

  • 0 min

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  • 1

    GLUT1 deficiency syndrome (GLUT1DS) is a rare neurometabolic disorder caused by pathogenic variants in the SLC2A1 gene.

  • 2

    A case study reports a boy with GLUT1DS who experienced intractable seizures and persistent indirect hyperbilirubinemia.

  • 3

    Genetic testing confirmed GLUT1DS and identified co-occurring UGT1A1 variants, suggesting impaired bilirubin conjugation.

  • 4

    The patient developed jaundice, anemia, and abdominal pain due to chronic hemolysis and gallstone-related cholestasis.

  • 5

    This case highlights the need for multidisciplinary care and hepatobiliary surveillance in GLUT1DS beyond neurological symptoms.

Original Source(s)

Case Report: Atypical hepatobiliary manifestations associated with erythrocyte membrane instability in glucose transporter type 1 deficiency syndrome

  • by Hahnbie Lee, Sook Won Ryu, Jeana Hong

  • May 20, 2026

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