Fatih AYGÜN, Ertuğrul KIYKIM, Çiğdem Aktuğlu ZEYBEK, Tanyel ZÜBARİOĞLU, Halit ÇAM

Treatment of maple syrup urine disease with high flow hemodialysis in a neonate

Continious renal replacement therapy (CRRT) is a well recognizied treatmentof choice in acute renal failure, however CRRT became a preferred treatmentof metabolic emergencies with high leucine and ammonia levels like Maplesyrup urine disease (MSUD). MSUD is a rare metabolic disorder caused bydeficiency in the activity of the branched-chain a-ketoacid dehydrogenasecomplex. The toxic accumulation of branched chain amino acids during acutemetabolic decompensation is associated with the appearance of permanentneurological symptoms. Four patients were admitted to our pediatric intensivecare department with complains of poor feeding, vomitting, irratibility andcoma. Physical examination of the neonates were similar having stupor,hypotonia and depressed newborn reflexes. The leucine levels were between930-4400 μmol/L. The diagnosis of MSUD was confirmed in all four. Theywere treated successfully with high flow CRRT having the rates were between4120 ml/h/1.73m2 and 9830 ml/h/1.73m2. Early treatment is essential toprevent neurotoxicity and death. CRRT is a choice of treatment in metaboliccrisis of MSUD. Herein, we report the successful treatment of acute metabolicdecompensation of MSUD with CRRT in 4 neonates.

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