Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia

Mol Genet Metab Rep. 2022 Feb 15:31:100848. doi: 10.1016/j.ymgmr.2022.100848. eCollection 2022 Jun.

Abstract

Although inflammatory bowel disease is a well-described feature of glycogen storage disease type Ib, it has been reported in only a small number of individuals with glycogen storage disease type Ia (GSDIa). We describe, to our knowledge, the first patient with GSDIa and very early-onset inflammatory bowel disease (VEO-IBD). Larger studies are needed to better understand this possible association, elucidate the mechanism of VEO-IBD in GSDIa, and inform management.

Keywords: Glycogen storage disease type 1a; Very early-onset inflammatory bowel.

Publication types

  • Case Reports