-
Original Article
-
Korean J Med. 2009;76(1):1-5.
- 다발성 간선종과 통풍을 동반한 당원병 Ia형 1예
-
이동건, 박성후, 최정문, 서종훈, 이진성, 양미진, 김근태
-
- A case of multiple hepatic adenomas and gout with glycogen storage disease type Ia
-
Dong Gun Lee, Sung Hoo Park, Jung Moon Choi, Jong Hoon Seo, Jin Sung Lee, Mi Jin Yang, Geun Tae Kim
-
-
- 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. (Korean J Med 76:S1-S5, 2009)
Keywords :Glycogen storage disease, Gout, Hepatic adenoma
