Genetics and biochemistry of the phenylketonuria-present state

@article{Bartholom1979GeneticsAB,
  title={Genetics and biochemistry of the phenylketonuria-present state},
  author={Klaus Bartholom{\'e}},
  journal={Human Genetics},
  year={1979},
  volume={51},
  pages={241-245}
}
Phenylketonuria is an autosomal recessive inherited disease caused by a disturbance in the phenylalanine hydroxylating system. Phenylalanine is converted to tyrosine by phenylalanine hydroxylase, which is located mainly in the liver. This enzyme needs the reduced cofactor tetrahydrobiopterin to be active. In phenylketonuria, low or zero enzyme activity is measured. Enzyme activity higher than 5% compared with that in normal controls is correlated to hyperphenylalaninemia. Dihydropteridine… CONTINUE READING

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