A case of gout with glycogen storage disease type Ia.
- Author:
Hyun Kuk KIM
1
;
Ji Yeol YOON
;
Eun Young LEE
;
Chang Keun LEE
;
Joong Yeol PARK
;
Bin YOO
;
Hee Bom MOON
Author Information
1. Department of Internal Medicine, University of Ulsan College of Medicine, Seoul, Korea. byoo@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Glycogen storage disease;
Glucose-6-phosphatase;
Gout;
Allopurinol
- MeSH:
Adult;
Allopurinol;
Ankle;
Elbow;
Fatigue;
Foot;
Glucose;
Glucose-6-Phosphatase;
Glycogen Storage Disease*;
Glycogen*;
Gout*;
Humans;
Hyperlipidemias;
Hyperuricemia;
Hypoglycemia;
Intestinal Mucosa;
Ketosis;
Kidney;
Knee;
Liver;
Male;
Starch;
Uric Acid
- From:Korean Journal of Medicine
2002;63(4):421-425
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive disorder that has defects in glucose-6-phosphatase (G6Pase) in liver, kidney and intestinal mucosa. The defect leads to inadequate conversion of glucose-6-phospate to glucose in the liver and thus makes affected individuals susceptible to fasting hypoglycemia, hyperuricemia, lactic acidemia and hyperlipidemia. Hyperuricemia has been observed in a considerable number of patients and in some of those, clinical gout has occurred. Inhibited tubular secretion of uric acid due to hyperlacticacidemia and ketonemia, and overproduction of uric acid have been postulated as a mechanism for hyperuricemia in patients with GSD-Ia. A 30-year-old male was admitted with fatigue, foot pain and multiple gouty tophi on knee, ankle, and elbow. GSD-Ia and gout were confirmed by analysis of the G6Pase gene and tophi aspiration respectively. He was treated with allopurinol and uncooked cornstarch. After treatment, foot pain improved and the number and size of tophi were decreased.
