Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients

• Egile Nagusiak: Zufit Hexner-Erlichman (Egilea), Maria Veiga- (Egilea), Yoav Zehavi (Egilea), Zahava Vadasz (Egilea), Adi D. Sabag (Egilea), Sameh Tatour (Egilea), Ronen Spiegel (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

BackgroundGlycogen storage disease type 1b (GSD1b) is an ultra-rare autosomal recessive disorder, caused by mutations in SLC37A4 gene. Affected patients present with episodes of fasting hypoglycemia and lactic acidosis, hepatomegaly, growth retardation, hyperlipidemia and renal impairment. In additi...