Received date: March 04, 2016Accepted date:March 07, 2016 Published date: March 09, 2016
Citation: Alvarez J,Silva GR,Menchaca HRM(2016) Maple Syrup Urine Disease. Pediat Therapeut 6:i115. doi: 10.4172/2161-0665.1000i115
Copyright: © 2016 Alvarez J, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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A 9 day-old male infant presented with generalized seizures, irritability, lethargy, vomiting, skin abrasions in the genital area and sweet-smelling urine with a resemblance to burnt sugar in odour. Physical examination showed cutis marmorata in abdomen and thorax, swelling of external genitalia associated with skin abrasions as well as lacerations in perineum and upper medial side of both thighs, and generalized erythema (Figure 1). Plasma and urine amino acid analysis revealed a perceptible increase of branched chain amino acids (BCAA). The diagnosis of maple syrup urine disease was confirmed on low branched-chain-α-keto acid dehydrogenase complex activity in lymphocytes. The patient was treated with a BCAA-free diet and thiamine (0.2 milligrams daily), with a good response.