Abstract
Serum phenylalanine concentrations decreased in 4 patients with hyperphenylalaninemia after loading with tetrahydrobiopterin. There were no abnormalities in urinary pteridine excretion or in dihydropteridine reductase activity. However, mutations were detected in the phenylalanine hydroxylase gene, suggesting a novel subtype of phenylalanine hydroxylase deficiency that may respond to treatment with cofactor supplementation.
Original language | English |
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Pages (from-to) | 375-378 |
Number of pages | 4 |
Journal | Journal of Pediatrics |
Volume | 135 |
Issue number | 3 |
DOIs | |
Publication status | Published - 1999 |
Externally published | Yes |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health