PEDIATRICS Vol. 65 No. 4 April 1980, pp. 840-842
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Differential Diagnosis of Variant Forms of Hyperphenylalaninemia

Seymour Kaufman PhD1

1 Laboratory of Neurochemistry, National Institute of Mental Health, Bethesda, Maryland

In 1975, a form of hyperphenylalaninemia was described in which neurologic deterioration occurs despite dietary control of the elevated blood phenylalanine levels.1 Subsequently, it was demonstrated that this condition can be caused by defects in the phenylalanine hydroxylase system other than in phenylalanine hydroxylase itself, ie, by a tissue deficiency of dihydropteridine reductase (DHPR)2,3 or of biopterin.4 Since then, research in the field of these newer, unresponsive variants of phenylketonuria (PKU) has moved ahead swiftly.

The treatment for these forms of hyperphenyl-alaninemia, which have been estimated to account for about 10% of the total, is different from that used for classic PKU.




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