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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Glycogen storage disease type IV in children

儿科综合

Common symptoms

腱反射消失、腹水、门脉高压、肌张力减低、肝功能衰竭、静脉曲张、消瘦、胃肠道症状、腹壁静脉怒张

The pathology of disease

Glycogen storage disease type IV in children (Andersen) is glycogen branching enzyme deficiency; hepatosplenomegaly; cirrhosis; hypotonia; children; AR; BE; liver transplant selected; pediatric metabolic.

Symptoms

Hepatosplenomegaly; cirrhosis; hypotonia; child; AR; BE; liver transplant

Causes

GBE1 mutation; AR; Andersen; GSD IV; child.

Treatment

Liver transplant selected; supportive; pediatric metabolic/genetics; no cure

Dept

Pediatrics / metabolic / medical genetics / pediatric gastroenterology.

Warm reminder: Health education reference only; seek care at regular hospital.