Case Report: Atypical hepatobiliary manifestations associated with erythrocyte membrane instability in glucose transporter type 1 deficiency syndrome
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By
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Hahnbie Lee
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Sook Won Ryu
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Jeana Hong
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May 20, 2026
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Clinical Scorecard: Clinical Case Study: Uncommon Hepatobiliary Complications Linked to Erythrocyte Membrane Instability in GLUT1 Deficiency Syndrome
At a Glance
| Category | Detail |
|---|
| Condition | GLUT1 Deficiency Syndrome (GLUT1DS) |
| Key Mechanisms | Pathogenic variants in SLC2A1 leading to glucose transport deficiency and erythrocyte membrane instability. |
| Target Population | Pediatric patients diagnosed with GLUT1DS. |
| Care Setting | Multidisciplinary care including pediatric gastroenterology and neurology. |
Key Highlights
- GLUT1DS primarily presents with neurological symptoms but can have atypical hematologic and hepatobiliary manifestations.
- Case of a boy with GLUT1DS exhibiting recurrent jaundice, anemia, and abdominal pain due to chronic hemolysis.
- Erythrocyte membrane instability linked to GLUT1 dysfunction was identified through specialized testing.
- Need for hepatobiliary surveillance in GLUT1DS patients beyond neurological care.
- Ketogenic diet is the standard therapy for neurological symptoms in GLUT1DS.
Guideline-Based Recommendations
Diagnosis
- Genetic testing for SLC2A1 variants to confirm GLUT1DS diagnosis.
Management
- Initiate a ketogenic diet for neurological symptom management.
Monitoring & Follow-up
- Regular assessment of bilirubin levels and erythrocyte membrane integrity.
Risks
- Potential for recurrent jaundice, anemia, and hepatobiliary complications.
Patient & Prescribing Data
Children diagnosed with GLUT1DS.
Management may require a multidisciplinary approach, including dietary interventions and monitoring for atypical complications.
Clinical Best Practices
- Conduct thorough genetic testing for atypical presentations of GLUT1DS.
- Implement multidisciplinary care strategies for comprehensive management.
- Monitor for hematologic and hepatobiliary complications in GLUT1DS patients.
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