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Maple syrup urine diseaseAs of December 2020, 1 in 61,244 newborns in the Philippines are diagnosed with Maple Syrup Urine Disease (MSUD) through the Expanded Newborn Screening. Maple Syrup Urine Disease is an inborn error in metabolism due to the deficiency of the enzyme that processes branched chain amino acids (BCAA’s). Branched chain amino acids are breakdown products of protein from our diet. They can be widely found in protein rich foods such as Milk, Egg, Fish, Poultry, Meat, Beans and Legumes. When these amino acids are not processed due to the deficient enzyme, they will accumulate and can manifest with irritability, poor feeding, vomiting, excessive sleepiness, muscle weakness, seizures and a maple syrup odor of the urine.

The management of MSUD has two main components:

1. Dietary therapy by modifying food sources to promote normal growth and development and to prevent future attacks. Newborns with Maple Syrup Urine Disease manifest symptoms when they have accumulations of unprocessed branched chain amino acids from their diet. Thus, by controlling the amount of branched chain amino acids (BCAAs) through special milk formulas, symptoms or severe attacks can be prevented. Children with MSUD will maintain a BCAA restricted diet for life and must be monitored weekly or monthly.

Another additional intervention is a four-week trial of Thiamine or Vitamin B1 supplementation because this vitamin is also involved in processing BCAAs especially in children with mild or intermediate form of MSUD.

2. Treatment of acute symptoms or attacks. Children with acute symptoms or attacks are treated with hydration and rapid removal of the excess BCAAs from the body through dialysis. Since treatment includes special nutrition given through the IV, it is important to bring the child to a health facility for proper assessment and timely intervention. After recovery, the child must be maintained on a diet low in BCAAs. There are commercially available synthetic formulas that are free from BCAAs which your doctor or dietitian can prescribe. For children with severe forms of MSUD, liver transplantation can be an option for treatment.

In general, there is no cure for MSUD but symptoms can be prevented and managed through a BCAA restricted diet and vitamin supplementation through the guidance of a Metabolic Disease Specialist and a Registered Nutritionist-Dietitian who specializes in managing MSUD patients. Children with MSUD tend to have better health outcomes when diagnosed and treated early. So, make sure that your baby is screened through the Expanded Newborn Screening and avail our health center’s free vaccines and services for your baby’s health!

/AET

References:

Bodamer, O.A. (2021). Overview of Maple Syrup Urine Disease. Uptodate. Retrieved from https://www.uptodate.com/contents/overview-of-maple-syrup-urine-disease?search=maple%20syrup%20urine%20disease&source=search_result&selectedTitle=1~23&usage_type=default&display_rank=1#H1

Kliegman, R.M., Geme III, J.W.S., Blum, N.J., Tasker, R.C., Shah, S.S., Wilson, K.M. & Behrman, R.E. (2020). Nelson Textbook of Pediatrics, 21st ed. Canada: Elsevier.

Newborn Screening Reference Center (2020). Fact Sheets: Information for Doctors about the Disorders included in the Expanded Newborn Screening Panel. Newborn Screening Reference Center. Retrieved from https://www.newbornscreening.ph/index.php?option=com_content&view=frontpage&Itemid=56