Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.

ABSTRACT:

Background

Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always capable to correctly predict disease severity. The aim of this study was to give an overview of PAH mutations among one of the largest cohort of patients among Europe, born in Lombardy (Italy) starting from late 1970 s and including over a 60 years of activity; furthermore, to evaluate and discuss identified genotype/phenotype correlations and related reliability.

Patients/methods

Eight hundred and twenty-six HPA patients in current follow-up at the San Paolo Hospital in Milan (Italy) were retrospectively reviewed, including molecular resu

SUBMITTER: Rovelli V 

PROVIDER: S-EPMC10000623 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature