Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels

Abstract

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.

Brazilian patients with phenylketonuria: Neuropsychological profile, correlation with metabolic measurements, and the importance of treatment adherence.

“…González García et al (2017) identified a trend toward an inverse relationship between IQ and the concomitant Phe concentration, median Phe level, and Phe/tyrosine ratio. Similarly, there was a trend toward a negative relationship between executive function and concurrent Phe values over the course of the patients' lives.…”