alexa Maple Syrup Urine Disease | Open Access Journals
ISSN: 2161-0665
Pediatrics & Therapeutics
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Maple Syrup Urine Disease

Jorge Alvarez1, Gerardo Rivera Silva1 and Hector R. Martinez Menchaca2*

1Department of Basic Sciences, University of Monterrey, Mexico

2Department of Orthodontics, Pediatric Dentistry and Special Care, University of Louisville, USA

*Corresponding Author:
Hector R. Martinez Menchaca
Department of Orthodontics, Pediatric Dentistry and Special Care
University of Louisville, 501 S. Preston Street
Louisville Kentucky, 40202, USA
Tel: 1 502 8527601
E-mail: [email protected]

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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Clinical Image

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.


Figure 1: Physical examination of maple syrup urine disease.

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