A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered...

A rare autosomal recessive disorder known as Fanconi-Bickel syndrome (FBS) is caused by variants in the SLC2A2 gene. This gene is responsible for encoding the glucose transporter 2 (GLUT2) protein. FBS is characterised by hepatomegaly, proximal renal tubular dysfunction, glucosuria, rickets and growth retardation. Here, we present a case of an SLC2A2 gene variant with an unusual clinical presentation involving extreme hepatic transaminase elevations during infectious episodes, a feature not commonly associated with FBS.

A male infant presented at 12 days of age with severe cholestasis and hepatomegaly. During follow-up, hypophosphatemic rickets and proximal renal tubular dysfunction emerged. Genetic analysis revealed a novel homozygous frameshift variant in the SLC2A2 gene (c.482dup; p.Gly162ArgfsTer17). During the clinical course, the most severe episodes were observed during infections, accompanied by elevations in liver enzymes. Management required glucose infusion and supportive therapy.

This article describes an SLC2A2 gene variant that had not been identified previously and shows that patients carrying this variant may be at risk of excessive liver involvement during infections. Therefore, it is emphasized that such patients should be monitored more closely and treated promptly during infections.