Glycogen storage disease with inflammatory bowel disease and hepatic adenoma|
Rafeey, M & Safaralizadeh, A
Objective: Inherited metabolic diseases, including glycogen storage disease (GSD), are frequently seen in Iranians due to the high consanguinity rate, but the distribution of various types of GSD is unknown. Hypoglycemia, hepatomegaly, growth retardation, hyperlipidemia, hyperlactacidemia, and hyperuricemia are the common features of GSD type 1, inflammatory bowel disease (IBD)-like colitis is a known entity in GSD.
Case presentation: We report a female patient with type Ia GSD (GSD Ia) who was followed-up for more than 17 years. GSD Ia was diagnosed based on biochemical tests and the pathology from a liver biopsy as she was 3 years old.
Conclusion: With ageing, more and more complications will develop, of which those related to liver adenomas are likely to be major causes of morbidity and mortality.
Glycogen storage disease , Inflammatory bowel disease , Liver adenoma