IDENTIFICATION OF 2 NEW PHENYLALANINE-HYDROXYLASE ALLELES IN SICILIANPHENYLKETONURIC FAMILIES

The study of the molecular basis of phenylalanine hydroxylase (PAH) de ficiency performed on 59 Sicilian PKU families has led to the identifi cation of 40% of the mutant genotypes (Romano et al 1993). Of the more than 60 mutations affecting the PAH locus in PKU, 10 have been identi fied so far in Sicily, thus uncovering a remarkable heterogeneity of P KU at the molecular level in this population.