Phenylalanine hydroxylase deficiency

@article{Mitchell2011PhenylalanineHD,
  title={Phenylalanine hydroxylase deficiency},
  author={John J. Mitchell and Yannis J. Trakadis and Charles R. Scriver},
  journal={Genetics in Medicine},
  year={2011},
  volume={13},
  pages={697-707}
}
Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid phenylalanine. It occurs in approximately 1:15,000 individuals. Deficiency of this enzyme produces a spectrum of disorders including classic phenylketonuria, mild phenylketonuria, and mild hyperphenylalaninemia. Classic phenylketonuria is caused by a complete or near-complete deficiency of phenylalanine hydroxylase activity and without dietary… 
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