Mediterranean PAH Stratification in Phenylketonuria: Tracing Historical Maps to Point Toward Clinical Phenotype and Obesity Risk.

doi:10.3390/genes17080861

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Article

Mediterranean PAH Stratification in Phenylketonuria: Tracing Historical Maps to Point Toward Clinical Phenotype and Obesity Risk.

Genes - 24 Jul 2026

Tummolo Albina, Tabaku Ornella, Meneleo Eleonora, Pierri Ciro Leonardo, De Grassi Anna, Di Tullio Vito, Paterno Giulia, De Giovanni Donatella

Abstract excerpt

BACKGROUND: Apulia and neighbouring Southern Italian regions present a complex genetic stratification shaped by historical migrations. Phenylketonuria (PKU), caused by PAH mutations, serves as an excellent model for molecular epidemiology. This study maps the geographical distribution of PAH variants in a large Southern Italian cohort, evaluating their correlation with clinical phenotypes and long-term Body Mass...

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PMID: 42650054
DOI: 10.3390/genes17080861
PMCID: PMC13512199

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