A first description of chronic arthritis and uveitis in an adolescent girl with glycogen storage disease

Purpose Glycogen storage disease (GSD) type 1a is an autosomal recessive inborn error of carbohydrate metabolism which affects glycogenolysis and gluconeogenesis. Severe fasting hypoglycemia and secondary biochemical abnormalities such as hyperuricemia occur. Molecular analysis differentiates GSD type 1 into different clinical phenotypes, of which Type 1b but not Type 1a, is associated with inflammatory bowel disease (IBD). While gout has been described in GSD, chronic arthritis and uveitis have not.