Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1

INTRODUCTION: Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a defect in the tyrosine degradation pathway. Current treatment consists of 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and a tyrosine and phenylalanine restricted diet. Recently, neuropsychol...

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Publicat a:PLoS One
Autors principals: van Ginkel, Willem G., van Vliet, Danique, Burgerhof, Johannes G. M., de Blaauw, Pim, Rubio Gozalbo, M. Estela, Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2017
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5614617/
https://ncbi.nlm.nih.gov/pubmed/28949985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0185342
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