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KMID : 0882420090760000001
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Korean Journal of Medicine
2009 Volume.76 No. 0 p.1 ~ p.5
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A case of multiple hepatic adenomas and gout with glycogen storage disease type Ia
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Lee Dong-Gun
Park Sung Hoo
Choi Jung-Mun
Seo Jong-Hoon
Lee Jin-Sung
Yang Mi-Jin
Kim Gun-Tae
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Abstract
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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.
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KEYWORD
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Glycogen storage disease, Gout, Hepatic adenoma
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