Two patients who underwent blood purification therapy for the acute exacerbation of Maple syrup urine disease

Abstract

Maple syrup urine disease (MSUD) is an inborn error of branched chain amino acid metabolism. An increase in the blood leucine (Leu) level causes serious neurological symptoms. We report two patients with the acute exacerbation of MSUD for whom blood purification therapy was performed to remove amino acids. Case 1 was a 9-year-old boy. On arrival, the GCS was evaluated as 2T, and CT revealed marked brain edema. Continuous hemodialysis was performed for 17 hours at a intensity of renal-replacement therapy of 35mL/kg/h. The Leu level decreased from 20 to 11mg/dL, but there was no improvement in the consciousness level. Case 2 was a 6-year-old boy. On arrival, the GCS was evaluated as 11 (E4V3M4). CT did not reveal any abnormalities. Sustained low-efficiency dialysis was performed at a intensity of renal-replacement therapy of Qb 100mL/min, Qd 200mL/min for 8 hours on Day 1 and for 9 hours on Day 2. The Leu level decreased from 15.95 to 3.21mg/dL on Day 1, and from 5.15 to 2.37mg/dL on Day 2. The consciousness level was normalized on Day 3. In Case 2, for blood purification therapy, the intensity of renal-replacement therapy was increased in comparison with Case 1 in the early stage in which central nervous symptoms were mild, leading to a rapid decrease in the Leu level. This may have contributed to a favorable neurological prognosis.