Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria.

@article{Avigad1991CompoundHI,
  title={Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria.},
  author={Smadar Avigad and S J Kleiman and Michal Weinstein and Bernard E. Cohen and Gerard Schwartz and Savio L. C. Woo and Y. Shiloh},
  journal={American journal of human genetics},
  year={1991},
  volume={49 2},
  pages={393-9}
}
Hyperphenylalaninemia (HPA) results from defective hydroxylation of phenylalanine in the liver, in most cases because of defective phenylalanine hydroxylase. HPA is highly variable, ranging from moderate elevation of plasma phenylalanine with no clinical consequences to a severe disease, classical phenylketonuria (PKU). Non-PKU HPA was found in excess of PKU in Israel, while the opposite is true in Europe. To study the genetic basis of non-PKU HPA, we performed haplotype analysis at the… CONTINUE READING