RESUMO
Most patients with glycogen storage disease (GSD) type Ib show features related to inflammatory bowel disease (IBD). The development of IBD seems to be associated with the defect of neutrophil function in GSD Ib. Patients with GSD Ia were not recognized to have similar gastrointestinal complaints until recently and are not associated with a neutrophil defect. Fifty consecutive GSD Ia inpatients over the age of 2 years without a diagnosis of IBD were screened using serologic and genetic markers via the Prometheus IBD sgi Diagnostic test. Eleven patients were tested positive for IBD (22%), with five fitting the pattern for Crohn's disease, five for ulcerative colitis, and one with nonspecific IBD. Only 2 out of the 11 patients had any gastrointestinal complaints. No pattern could be distinguished from individual inflammatory markers, genetics, inflammation antibodies, age, complications, or metabolic control. Of note, 9 out of 11 patients testing positive were female. Patients with GSD Ia were found to have a higher rate of serologically indicated IBD when compared with the general population. While these subjects will need to be followed to determine if these serologic markers correlate with clinical disease, this study supports that IBD may be more common in the GSD Ia population. Further studies are warranted to explain the relationship between IBD and GSD I since it may provide clues regarding the pathogenesis of IBD development in the general population.