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. Author manuscript; available in PMC: 2021 Nov 20.
Published in final edited form as: Nat Rev Dis Primers. 2021 May 20;7(1):36. doi: 10.1038/s41572-021-00267-0

Fig. 2 |. The prevalence of PAH deficiency and different PAH deficiency phenotypes worldwide.

Fig. 2 |

The global prevalence of phenylalanine hydroxylase (PAH) deficiency and that of the different severities of PAH deficiency are depicted. The prevalence of PAH deficiency varies considerably between different geographic regions (coloured map), with the highest prevalence reported in the Republic of Ireland, Germany, Italy, Iran and Jordan. The proportions of cases of classic PKU, mild phenylketonuria (PKU) and mild hyperphenylalaninaemia in representative countries are indicated (pie graphs). Data are from Hillert et al. (2020)28. As a clear definition of variants of PAH deficiency is lacking, prevalence data for the different PAH severities should be interpreted with care.