Phenylketonuria Pathophysiology: on the Role of Metabolic Alterations

Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism caused by the deficiency of phenylalanine hydroxylase. This deficiency leads to the accumulation of Phe and its metabolites in tissues and body fluids of PKU patients. The main signs and symptoms are found in the brain but th...

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Bibliografiske detaljer
Udgivet i:Aging Dis
Main Authors: Schuck, Patrícia Fernanda, Malgarin, Fernanda, Cararo, José Henrique, Cardoso, Fabiola, Streck, Emilio Luiz, Ferreira, Gustavo Costa
Format: Artigo
Sprog:Inglês
Udgivet: JKL International LLC 2015
Fag:
Review Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4567221/
https://ncbi.nlm.nih.gov/pubmed/26425393
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14336/AD.2015.0827
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