Journal of Rare Disorders: Diagnosis & Therapy

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.

Author(s):

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

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