malignant hyperphenylalaninemia

ma·lig·nant hy·per·phen·yl·al·a·ni·ne·mi·a

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.
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