LowproteinLIVING

What is Maple Syrup Urine Disease (MSUD)?

Maple Syrup Urine Disease (MSUD) is a rare inherited disorder affecting the metabolism of leucine, isoleucine and valine.

The disease can present itself in a variety of forms from a severe presentation to a much milder form.  Symptoms will vary from individual to individual and include drowsiness, rapid breathing and vomiting.  A spell in hospital is often necessary to stabilise the infant/child and the hospital team will give you information and guidance on how to manage your child’s condition.

The aim of dietary management is to prevent the accumulation of the branched chain amino acids by means of a low protein diet. The protein requirements are met by supplementing the diet with a leucine, isoleucine and valine free amino acid mixture, and by a small amount of natural protein to provide the necessary leucine, isoleucine and valine requirements. The natural protein intake is based on leucine requirements (by means of an exchange system in the UK) and additional isoleucine and valine may be required as supplement. These amino acids are available individually from SHS.

Whilst dietary management is a key part of MSUD treatment there are milder variants of the disorder which are also vitamin responsive (thiamin). Emergency regimes are required in periods of decompensation and catabolism.

Guidance on amino acid intakes have been extrapolated from the MRC guidelines on PKU management.

Bibliography

Report of Medical Research Council on the Dietary Management of Phenylketonuria. Recommendations on the Dietary Management of Phenylketonuria. Arch. Dis. Child. 1993 68 426-7

Lawson M, Shaw V (eds.). Clinical Paediatric Dietetics 2nd ed. Oxford:Blackwell Science, 2001.

DH Morton. “Diagnosis and Treatment of MSUD: A Study of 36 Patient” Pediatrics 2002; 109: 999-1008

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The content provided by lowproteinLIVING is for information purposes only and is in no way intended to be a substitute for medical consultation with your doctor, dietitian or healthcare professional. The information, opinions, and recommendations presented in these pages are not intended to replace the care of your own doctor, dietitian or healthcare professional. Before you make any changes in the management of your diet / treatment or any other persons diet /treatment you should always consult your doctor, dietitian or healthcare professional. Although we carefully review our content, lowproteinLIVING cannot guarantee or take responsibility for the medical accuracy of documents we publish, nor can shs-nutrition assume any liability for the content of any web site linked to our site. © 2008 SHS International. All rights reserved.

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