Continuous Venovenous Hemodiafiltration in the Treatment of Maple Syrup Urine Disease

Demirkol D., ŞIK S. G., Topal N., Citak A., AKTUĞLU ZEYBEK A. Ç., Tuten A., ...More

BLOOD PURIFICATION, vol.42, no.1, pp.27-32, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 42 Issue: 1
  • Publication Date: 2016
  • Doi Number: 10.1159/000443783
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.27-32
  • Bezmialem Vakıf University Affiliated: Yes


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) mu mol/l before and was 256.5 +/- 150.6 (117-646) mu mol/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. (C) 2016 S. Karger AG, Basel