A case of multiple hepatic adenomas and gout with glycogen storage disease type Ia.
- Author:
Dong Gun LEE
1
;
Sung Hoo PARK
;
Jung Moon CHOI
;
Jong Hoon SEO
;
Jin Sung LEE
;
Mi Jin YANG
;
Geun Tae KIM
Author Information
1. Department of Internal Medicine, Busan Medical Center, Busan, Korea. gtah311@kornet.net
- Publication Type:Case Report
- Keywords:
Glycogen storage disease;
Gout;
Hepatic adenoma
- MeSH:
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
- From:Korean Journal of Medicine
2009;76(Suppl 1):S1-S5
- CountryRepublic of Korea
- Language:Korean
-
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
