Continuous venovenous hemodiafiltration in the treatment of maple syrup urine disease

Abstract

Background: The study aims to define the efficacy of continuous renal replacement therapy in acute metabolic decompensation treatment of maple syrup urine disease (MSUD). Methods: All the neonates, infants and children who have had life threatening conditions due to MSUD and were treated with continuous venovenous hemodiafiltration (CVVHDF) were analyzed retrospectively. Results: Fourteen patients underwent 15 sessions of CVVHDF (age range 15 days to 87 months, mean 40.8 ± 31.4 months). One patient required additional CVVHDF 1 week after cessation of CVVHDF. Twenty seven percent (n = 4) of the patients were intubated and mechanically ventilated. Twelve patients responded to treatment and dramatic neurological improvement was observed within 24 h. Two of the 14 patients required 36 h of CVVHDF for neurological improvement. The mean duration of CVVHDF was 20.2 ± 8.6 (9-36) h. The mean leucine level was 1,648 ± 623.8 (714-2,768) μmol/l before and was 256.5 ± 150.6 (117-646) μmol/l at the end of treatment. No mortality was observed. Conclusion: Continuous hemodiafiltration is an effective and safe method in correcting metabolic disturbances in MSUD.