Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.


Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. [Email]


The nature of phenylalanine hydroxylase (PAH) variants determines residual enzyme activity, which modifies the clinical phenotype in phenylketonuria (PKU). We exploited the statistical power of a large genotype database to determine the relationship between genotype and phenotype in PKU.


Genotype–phenotype prediction,Locus-specific database,PKU,Tetrahydrobiopterin,