M. Cissne

Ecological momentary assessment of cognitive symptoms in individuals with phenylketonuria

Phenylketonuria (PKU) is a rare autosomal recessive condition characterized by mutations in the gene encoding the phenylalanine hydroxylase (PAH) enzyme that is necessary for the metabolism of the amino acid phenylalanine (Phe). When not properly metabolized, excess Phe can have disruptive effects on the brain. Althoug...