ArticleFrontiers in pediatrics2026
Case Report: Atypical hepatobiliary manifestations associated with erythrocyte membrane instability in glucose transporter type 1 deficiency syndrome.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1DS) is a rare neurometabolic disorder caused by pathogenic variants in Case presentation: We report a boy diagnosed with GLUT1DS at five years of age who presented with intractable seizures and persistent indirect hyperbilirubinemia. Genetic testing identified a heterozygous in-frame deletion in Conclusion: This case expands the phenotypic spectrum of GLUT1DS by linking erythrocyte membrane instability to recurrent hemolysis and rarely reported hepatobiliary complications. Functional evaluation of erythrocyte membrane integrity may facilitate recognition of atypical systemic manifestations of GLUT1DS and supports the need for multidisciplinary surveillance beyond neurological care.
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