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

MOLECULAR GENETICS AND METABOLISM REPORTS（2022）

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摘要

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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关键词

Glycogen storage disease type 1a, Very early-onset inflammatory bowel

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