Diagnosis and Management of Malignant Hyperphenylalaninemia

Publisher Website
Google Scholar
Abstract
To the Editor: There has recently been an increasing number of reports of hyperphenylalaninemia caused by inherited deficiencies of the enzymes needed to regenerate tetrahydrobiopterin.1 2 3 Tetrahydrobiopterin deficiency results in a relative diminution in phenylalanine tolerance and also a deficient biosynthesis of the neurotransmitters L-dopa and 5-hydroxytryptophan and their metabolites. Persons with this disease have a poor prognosis despite effective dietary treatment of the hyperphenylalaninemia.Recently, Curtius et al. have described the use of synthetic tetrahydrobiopterin to distinguish between persons with a deficiency of phenylalanine hydroxylase apoenzyme and those with the so-called malignant hyperphenylalaninemia.3 Only persons with defects in cofactor generation . . .

This publication has 5 references indexed in Scilit: