A case of multiple hepatic adenomas and gout with glycogen storage disease type Ia / 대한내과학회지
Korean Journal of Medicine
;
: S1-S5, 2009.
Article
Dans Coréen
| WPRIM
| ID: wpr-183141
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
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Acidose lactique
/
Glycogénose
/
Glycogénose de type I
/
Adénomes
/
Glucosephosphatase
/
Arthralgie
/
Hyperuricémie
/
Glycogène
/
Goutte
/
Hépatomégalie
Limites du sujet:
Adulte
/
Humains
/
Mâle
langue:
Coréen
Texte intégral:
Korean Journal of Medicine
Année:
2009
Type:
Article
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