A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

Article Abstract:

A European multicenter study of phenylalanine hydroxylase deficiency has led to a general system for prediction of metabolic phenotype based on genotype and to classification of 105 mutations. Mild hyperphenylalaninemia (MHP) and phenylketonuria (PKU) are allelic disorders caused by mutations in the gene coding for phenylalanine hydroxylase (PAH). Both mutations were found in 686 patients in seven locations in Europe. Based on the phenotypic characteristics of 297 functionally hemizygous patients, 105 of the mutations were assigned to one of four arbitrary phenotype categories. Data show that the PAH-mutation genotype is the primary determinant of metabolic phenotype in most PAH-deficiency patients. The disorder is autosomal recessive.

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High incidence of later-onset fabry disease revealed by newborn screening

Article Abstract:

Newborn screening by assaying the alpha-Gal A activity in blood spots from 37,104 consecutive Italian male neonates to determine the disease incidence is undertaken. Molecular modeling and in vitro overexpression of the missense mutations demonstrates structures and residual activities, which were rescued/enhanced by an alpha-Gal A-specific pharmalogic chaperone, consistent with mutations that cause the later-onset phenotype.

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Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations

Article Abstract:

Several studies on the Ashkenazi (AJ) and Sephardi Jewish (SJ) patients are conducted to discuss the allele sensitivities and resistance frequencies of two warfarin pharmacogenetics, CYP2C9 and VKORC1.

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