[Pathogenetic mechanisms in phenylketonuria: disorders affecting the metabolism of neurotransmitters and the antioxidant system].
OBJECTIVE
To review the clinical and biochemical changes in neurotransmission and antioxidant system in phenylketonuric patients under dietary treatment.


METHODS
Phenylketonuria (PKU) is an inborn error of metabolism caused by decreased activity of the enzyme L-phenylalanine-4-mono-oxigenase that synthesizes tyrosine from phenylalanine. According to analytical data from PKU patients and to experimental studies in animal models, high phenylalanine values in plasma and tissues seem to be related with defective biosynthesis of neurotransmitter (mainly serotonin and dopamine) and impairment of antioxidant system. Despite dietary treatment, PKU patients usually present moderate hyperphenylalaninemia over the evolution of the disease that might cause clinical and biochemical abnormalities.


CONCLUSIONS
Increased plasma phenylalanine concentrations and dietary treatment might be related with neurotransmitter and antioxidant system abnormalities in human phenylketonuria. These biochemical alterations might be involved in the physiopathology of PKU.
Ormazábal
A
A
Servicio de Bioquímica, Hospital Sant Joan de Déu, Esplugues de Ll., Barcelona, Spain.
Artuch
R
R
Vilaseca
M A
MA
García-Cazorla
A
A
Campistol
J
J
D000818:Animals; D000975:Antioxidants / Q000378:metabolism*; D001894:Borohydrides / Q000627:therapeutic use; D004035:Diet Therapy; D006801:Humans; D018377:Neurotransmitter Agents / Q000378:metabolism*; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D009435:Synaptic Transmission / Q000502:physiology
D000975:Antioxidants; D001894:Borohydrides; D018377:Neurotransmitter Agents; D010649:Phenylalanine