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

OBJECTIVES: gene variant with an unusual clinical presentation involving extreme hepatic transaminase elevations during infectious episodes, a feature not commonly associated with FBS. CASE PRESENTATION: 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. CONCLUSIONS: 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.