Molecular Genetics and Metabolism Reports (Jun 2022)

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

  • William B. Hannah,
  • Ricardo C. Ong,
  • Margarita Nieto Moreno,
  • Surekha Pendyal,
  • Monica Abdelmalak,
  • Judith Kelsen,
  • Nancy M. McGreal,
  • Priya S. Kishnani

Journal volume & issue
Vol. 31
p. 100848

Abstract

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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.

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