Abstract
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.
Highlights
Glycogen storage disease (GSD) type 1a is an autosomal recessive inborn error of carbohydrate metabolism which affects glycogenolysis and gluconeogenesis
While gout has been described in GSD, chronic arthritis and uveitis have not
Due to persisting disease activity and limited options for treatment due to the underlying disease, Adalimumab was initiated, which resulted in progressive and marked improvement of both the uveitis and the arthritis and was well-tolerated. This is the first description of a GSD patient with a chronic form of arthritis and uveitis
Summary
A first description of chronic arthritis and uveitis in an adolescent girl with glycogen storage disease. Karen N Watanabe Duffy*, Robert Polomeno, Constantin Polychronakos, Ciaran M Duffy. From 2011 Pediatric Rheumatology Symposium sponsored by the American College of Rheumatology Miami, FL, USA. 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
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