Clinical application of genotypic diagnosis for phenylketonuria: theoretical considerations.

Abstract excerpt

Identification of mutations within the phenylalanine hydroxylase gene which cause phenylketonuria has introduced the possibility of diagnosing phenylketonuria by direct analysis of the genome. Genotypic analysis could be used for identifying homozygotes in the newborn period, for prenatal diagnosis, or for heterozygote detection in general populations. Establishing the clinical utility of genotypic diagnosis,...

Topics

• Genotype
• Humans
• Mutation
• Phenotype
• Phenylalanine
• Phenylalanine Hydroxylase
• Phenylketonurias
• Sensitivity and Specificity