A case of multiple hepatic adenomas and gout with glycogen storage disease type Ia / 대한내과학회지
Korean Journal of Medicine
;
: S1-S5, 2009.
Artículo
en Coreano
| 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
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Acidosis Láctica
/
Enfermedad del Almacenamiento de Glucógeno
/
Enfermedad del Almacenamiento de Glucógeno Tipo I
/
Adenoma
/
Glucosa-6-Fosfatasa
/
Artralgia
/
Hiperuricemia
/
Glucógeno
/
Gota
/
Hepatomegalia
Límite:
Adulto
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Korean Journal of Medicine
Año:
2009
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS