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Archivos argentinos de pediatría
versión impresa ISSN 0325-0075versión On-line ISSN 1668-3501
Resumen
GONZALEZ GARCIA, María B et al. Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels. Arch. argent. pediatr. [online]. 2017, vol.115, n.3, pp.267-273. ISSN 0325-0075. http://dx.doi.org/10.5546/aap.2017.267.
Although with early treatment phenylketonuria patients may have average intelligence levels, it is important to optimize the nutritional management to maintain adequate phenylalanine levels, so that patients can develop their intellectual potential free of abnormalities in their daily activities due to deficits of cognitive executive functions. This study presents a series of 26 patients, diagnosed and treated early, who underwent a psychometric evaluation together with phenylalanine determinations along their lives, and at the time of doing the tests. A trend is observed towards a reverse relationship between IQ and concurrent phenylalanine concentration, phenylalanine median and phenylalanine/tyrosine ratio. Likewise, a trend towards a negative relationship is observed between executive functions and concurrent phenylalanine values along patients' lives.
Palabras clave : Phenylketonuria; Intelligence; Executive function; Phenylalanine.