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Maple Syrup Urine Disease: An Overview Mr. George Rinu J* Associate Professor, [Child Health Nursing] Shri Shankaracharya College of Nursing, Amdi Nagar, Hudco, Bhilai, CG *Corresponding Author E-mail: rinugeorge57@yahoo.com
Online published on 10 August, 2020. Abstract Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants’ urine, particularly prior to diagnosis, and during times of acute illness. Maple syrup urine disease can be classified by its pattern of signs and symptoms, or by its genetic cause. The disease is named for the presence of sweet-smelling urine, similar to maple syrup, The treatment of MSUD has two chief components: lifelong therapy to maintain acceptable amino acid levels in the body and immediate medical intervention for metabolic crises. Top Keywords Maple syrup urine disease (MSUD), branched-chain amino acids (BCAAs), branched-chain ketoacid dehydrogenase (BCKDC). Top | |
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