عنوان مقاله [English]
Glycogen storage diseases (GSDs) comprise several rare inherited diseases caused by abnormalities of enzymes that regulate the synthesis of Glycogen.
A- 26 years old man admitted to the hospital because of pain and swelling in his ankles. Also, he had delay of puberty. In diagnostic evaluation, the patient had hyperuricemia, hyperlipidemia and adenomatous nodules in the liver. Liver biopsy revealed Glycogen storage disease type 1.
Gouty arthritis in glycogen storage disease is not uncommon; however, glycogen storage disease as a reason of gouty arthritis is rare. Because of growth failure, delayed puberty and laboratory results we strongly suspected to an underlying disease as a cause of hyperuricemia and gouty arthritis leading to glycogen storage disease diagnosis.