Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy

Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy

Maple syrup urine disease (MSUD) is an autosomal recessive aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids (BCAAs: leucine, isoleucine, and valine). Accumulation of their corresponding keto-acids leads to encephalopathy if not treated in time....

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Bibliographic Details
Main Author: Jia-Woei Hou
Format: Article
Language:English
Published: Elsevier 2016-10-01
Series:Pediatrics and Neonatology
Subjects:
acrodermatitis enteropathica
DBT gene
maple syrup urine disease
myelopathy
zinc deficiency
Online Access:http://www.sciencedirect.com/science/article/pii/S1875957213002350

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http://www.sciencedirect.com/science/article/pii/S1875957213002350

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