Phenylketonuria Pathophysiology: on the Role of Metabolic Alterations.
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SUBMITTER: Schuck PF
PROVIDER: S-EPMC4567221 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
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Phenylketonuria Pathophysiology: on the Role of Metabolic Alterations.
Schuck Patrícia Fernanda PF Malgarin Fernanda F Cararo José Henrique JH Cardoso Fabiola F Streck Emilio Luiz EL Ferreira Gustavo Costa GC
Aging and disease 20150901 5
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 the pathophysiology of this disease is not well understood. In this context, metabolic alterations such as oxidative stress, mitochondrial dysfunction, and impaired protein and neurotransmitters synthes ...[more]
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