Glycogen Storage Disease Type XI

**Semantic type:** Disease or Syndrome

**Definition:** Glycogen storage disease caused by mutation(s) in the SLC2A2 gene, encoding solute carrier family 2, facilitated glucose transporter member 2. It is characterized by marked proximal renal tubular dysfunction and hepatorenal glycogen accumulation.

**Synonyms:** - Fanconi-Bickel Syndrome - Glycogen Storage Disease Due to GLUT2 Deficiency