The Management Of a Case With Maple Syrup Urine Disease With Haemofiltration and Nutritional Support in the Perioperative Period

We present a case of a female adult patient with Maple Syrup Urine Disease (MSUD) who had recurrent episodes of raised Branched Chain Amino Acids levels (BCAA). Frequent increases in leucine >1000 μmol/L were associated with vomiting, reduced oral intake and general illness. Her recurrent episodes of vomiting might have been also caused by an oesophageal polyp. Due to poor food intake an eating disorder was suspected. As a result she was at increased risk of refeeding syndrome and acute metabolic decompensation. On the admission to the hospital with acute appendicitis, the management of her nutrition to increase the anabolism and prevent the accumulation of BCAA was challenging; she was not able to tolerate oral food but only a fraction of the total volume of prescribed supplements administered via nasogastic tube. Continuous venovenous haemofiltration over 3 days facilitated a reduction in BCAA levels and prevention of complications of acute decompensation. Her weight remained stable but low after the surgery.


Karolina M Stepien, Gisela Wilcox, Diane Green, Stephen Fletcher and Prof Chris J Hendriksz

Abstract | Full-Text | PDF

Share this  Facebook  Twitter  LinkedIn  Google+
30+ Million Readerbase
Recommended Conferences
Google scholar citation report
Citations : 158

Journal of Rare Disorders: Diagnosis & Therapy received 158 citations as per google scholar report

Journal of Rare Disorders: Diagnosis & Therapy peer review process verified at publons
Abstracted/Indexed in
  • Google Scholar
  • China National Knowledge Infrastructure (CNKI)
  • Directory of Research Journal Indexing (DRJI)
  • Publons
  • Secret Search Engine Labs
  • Euro Pub

View More »

Flyer image


agar io


wormax io