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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Publicat a:Aging Dis
Autors principals: Schuck, Patrícia Fernanda, Malgarin, Fernanda, Cararo, José Henrique, Cardoso, Fabiola, Streck, Emilio Luiz, Ferreira, Gustavo Costa
Format: Artigo
Idioma:Inglês
Publicat: JKL International LLC 2015
Matèries:
Review Article
Accés en línia: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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