Korean J Med.  2009 Apr;76(Suppl 1):S1-S5.

A case of multiple hepatic adenomas and gout with glycogen storage disease type Ia

• Lee DG
• Park SH
• Choi JM
• Seo JH
• Lee JS
• Yang MJ
• Kim GT

Abstract

Glycogen storage disease (GSD) type Ia is a rare inherited metabolic disease characterized by glucose-6-phosphatase (G6Pase) deficiency, which results in many metabolic problems, such as fasting hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia. The metabolic derangements may result in long-term complications, including growth retardation, gout, hepatic adenomas, and renal disease. A 26-year-old male was admitted with general weakness, multiple subcutaneous mass-like lesions, and hepatomegaly. He was diagnosed as GSD type Ia through analysis of the G6Pase gene. This disease is found mainly in childhood, but we diagnosed a case of GSD type Ia during a work-up of arthralgia and hepatomegaly in an adult patient. We report this case with a review of the literature

Keyword

Glycogen storage disease; Gout; Hepatic adenoma

MeSH Terms

Acidosis, Lactic
Adenoma
Adult
Arthralgia
Glucose-6-Phosphatase
Glycogen
Glycogen Storage Disease
Glycogen Storage Disease Type I
Gout
Hepatomegaly
Humans
Hyperlipidemias
Hyperuricemia
Hypoglycemia
Male
Metabolic Diseases
Glucose-6-Phosphatase
Glycogen
Glycogen Storage Disease Type I