Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect

Currently, six inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature are known. The “Primary 3-methylglutaconic aciduria,” 3-methylglutaconyl-CoA hydratase deficiency or AUH defect, is a disorder of leucine catabolism. For all other subtypes, also denoted “Secondary...

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Bibliografski detalji
Izdano u:JIMD Rep
Glavni autori: Wortmann, Saskia B., Kluijtmans, Leo A. J., Sequeira, Silvia, Wevers, Ron A., Morava, Eva
Format: Artigo
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2014
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4221300/
https://ncbi.nlm.nih.gov/pubmed/24757000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_309
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