1.
J Pediatr
; 135(3): 375-8, 1999 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-10484807
RESUMO
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.