Korean J Med.  2002 Oct;63(4):421-425.

A case of gout with glycogen storage disease type Ia

• Kim HK
• Yoon JY
• Lee EY
• Lee CK
• Park JY
• Yoo B
• Moon HB

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.

Keyword

Glycogen storage disease; Glucose-6-phosphatase; Gout; Allopurinol

MeSH Terms

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
Allopurinol
Glucose
Glucose-6-Phosphatase
Glycogen
Starch
Uric Acid