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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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Detalhes bibliográficos
Publicado no:Aging Dis
Main Authors: Schuck, Patrícia Fernanda, Malgarin, Fernanda, Cararo, José Henrique, Cardoso, Fabiola, Streck, Emilio Luiz, Ferreira, Gustavo Costa
Formato: Artigo
Idioma:Inglês
Publicado em: JKL International LLC 2015
Assuntos:
Acesso em linha: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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