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Leveraging Cognitive and Speech Ecological Momentary Assessment in Individuals With Phenylketonuria: Development and Usability Study of Cognitive Fluctuations in a Rare Disease Population

Leveraging Cognitive and Speech Ecological Momentary Assessment in Individuals With Phenylketonuria: Development and Usability Study of Cognitive Fluctuations in a Rare Disease Population

PKU is characterized by a deficiency in the phenylalanine hydroxylase enzyme, necessary for the metabolism of the amino acid or phenylalanine (Phe) [3,5-7]. This causes disruptions in Phe metabolism [2] and deficiencies in tyrosine, or Tyr, with significant downstream effects on serotonin and dopamine [5,7]. Individuals with PKU tend to experience difficulties on tests measuring verbal fluency [2,8], processing speed [3,9], and executive functioning [5,6].

Shifali Singh, Lisa Kluen, Katelin Curtis, Raquel Norel, Carla Agurto, Elizabeth Grinspoon, Zoe Hawks, Shawn Christ, Susan Waisbren, Guillermo Cecchi, Laura Germine

JMIR Form Res 2025;9:e63644