Figure 1.

Lifetime recorded measurements of blood phenylalanine concentrations in PKU individuals with PAH c.1222C>T variants

All available Phe concentrations from 32 PKU individuals harboring the c.1222C>T variant in trans with a second pathogenic allele are shown on the left, where all available levels from four individuals homozygous for c.1222C>T are shown on the right. Most individuals had several recorded concentrations above 360 μmol/L, the maximum recommended concentration per PKU guidelines, as indicated by the dotted line.