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Home > West Medicine > Pediatrics > Pediatric Internal Med

Classroom classification

百科

Maple syrup urine disease in children

小儿内科

Common symptoms

嗜睡、体重减轻、共济失调、酮症酸中毒、前囟饱满、婴儿喂养困难、肌张力过高、糖尿、惊厥

The pathology of disease

Maple syrup urine disease in children is branched-chain alpha-ketoacid dehydrogenase deficiency; sweet urine; neonatal encephalopathy; ketosis; children; diet; thiamine; metabolic/genetics.

Symptoms

Sweet urine; neonatal encephalopathy; ketosis; child; newborn screen; MSUD; diet

Causes

BCKDH deficiency; AR; MSUD; branched-chain amino acids; child.

Treatment

Low leucine diet; thiamine selected; emergency management; liver transplant selected; pediatric metabolic/genetics

Dept

Pediatrics / metabolic / medical genetics / neonatology.

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

Family room

小儿内科Overview of the Western Medical Room