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Phenylketonuria

  1. George C-T Jiang1,
  2. George J Yohrling IV2,
  3. Kent E Vrana3

Published Online: 19 APR 2001

DOI: 10.1038/npg.els.0002006

eLS

eLS

How to Cite

Jiang, G. C.-T., IV, G. J. Y. and Vrana, K. E. 2001. Phenylketonuria. eLS. .

Author Information

  1. 1

    Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA

  2. 2

    Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA

  3. 3

    Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA

Publication History

  1. Published Online: 19 APR 2001

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Abstract

Phenylketonuria is an autosomal recessive metabolic disorder resulting in increased phenylalanine concentrations. This treatable condition is a leading cause of mental retardation.

Keywords:

  • PKU;
  • metabolic disorder;
  • hyperphenylalaninaemia;
  • phenylalanine hydroxylase