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WHAT IS MSUD?

Maple Syrup Urine Disease is a rare genetic disorder that occurs when you have a deficiency of certain enzymes that are required to break down branched-chain amino acids (BCAAS). These amino acids are found in high protein foods, and are essential in small doses. However if the person cannot break BCAAs down, this results in a high number of leucine, isoleucine and valine in the body. This can cause lethargy and irritability, soon followed by abnormal movements or seizures. If left untreated, brain damage can occur and death usually follows within weeks. The disease causes urine to smell like maple syrup which allows the disease to be detected quickly. MSUD is estimated to affect 1 in 185,000 newborns worldwide. This is an extremely rare disease so the chances of getting MSUD as an infant is very slim. If one is affected by this disease, high protein foods are extremely discouraged such as dairy products and meat. However, foods like fruits and vegetables are encouraged and better for your health.

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SOURCES

Cleveland Clinic Medical Professional. โ€œMaple Syrup Urine Disease (MSUD).โ€ Cleveland Clinic, Cleveland Clinic, my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease.

โ€œMaple Syrup Urine Disease.โ€ NORD (National Organization for Rare Disorders), 5 June 2020, rarediseases.org/rare-diseases/maple-syrup-urine-disease/.

โ€œMSUD Fact Sheet.โ€ Nutricia Metabolic Nutrition, Feb. 2013, http://medicalfood.com/Global/Fact%20sheets/MSUDfactsheet.pdf.



Sam B., Violet H., Savannah M.