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Home > West Medicine > Pediatrics > Pediatric Internal Med

Classroom classification

百科

Pediatric galactosemia

小儿内科

Common symptoms

嗜睡、拒食、体重减轻、腹水、败血症、肝功能衰竭、半乳糖血症、先天性乳糖不耐受、肝脏肿大

The pathology of disease

Galactosemia is GALT enzyme deficiency; newborn screening; jaundice; vomiting; cataracts; liver/kidney; strict lactose-free diet; developmental/ovarian follow-up.

Symptoms

Jaundice; vomiting; cataracts; hepatomegaly; failure to thrive; newborn screen positive; E. coli sepsis risk

Causes

GALT mutation; autosomal recessive; galactose-1-phosphate accumulation.

Treatment

Strict lactose/galactose-free diet; treat E. coli sepsis; developmental/ovarian follow-up; metabolic; newborn screening

Dept

Metabolic / pediatrics / genetics.

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

Family room

小儿内科Overview of the Western Medical Room