Continuous Venovenous Hemodiafiltration in the Treatment of Maple Syrup Urine Disease.

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.