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malignant hyperphenylalaninemia

 

Definition:

  1. dHPR-deficient form; an inherited disorder in which there is an absence or deficiency of dihydropteridine reductase (DHPR); this results in impaired regeneration of tetrahydrobiopterin, causing an elevation in phenylalanine levels;
  2. gTP-CH form; an inherited disorder in which there is a deficiency of guanosine triphosphate cyclohydrolase, an enzyme used in the biosynthesis of tetrahydrobiopterin;
  3. 6-PTS form; an inherited disorder in which there is a deficiency of 6-pyruvoyltetrahydropterin synthase, an enzyme that participates in the biosynthesis of tetrahydrobiopterin.

Synonym(s): nonclassical phenylketonuria

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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