See Also: malignant hyperphenylalaninaemia(medicine)
non-PKU hyperphenylalaninaemia(medicine)
hyperphenylalaninaemia(medicine)
Herbal medicine (botanical medicine, herbology, phytomedicine)(health)
Medicine Lodge Memorial Hospital- Medicine Lodge(health)
Orthomolecular medicine (orthomolecular nutritional medicine, orthomolecular therapy)(health)
malignant(dictionary)
Malignant(health)
malignant(dictionary)
MALIGNANT(medicine)

malignant hyperphenylalaninaemia (medicine)


malignant hyperphenylalaninaemia


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, GTP-CH form; an inherited disorder in which there is a deficiency of guanosine triphosphate cyclohydrolase, an enzyme used in the biosynthesis of tetrahydrobiopterin, 6-PTS form; an inherited disorder in which there is a deficiency of 6-pyruvoyl tetrahydropterin synthase, an enzyme that participates in the biosynthesis of tetrahydrobiopterin.

Synonym: nonclassical phenylketonuria.