Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Authors
Kure, S Hou, DC Ohura, T Iwamoto, H Suzuki, S Sugiyama, N Sakamoto, O Fujii, K Matsubara, Y Narisawa, K
Citation
S. Kure et al., Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, J PEDIAT, 135(3), 1999, pp. 375-378
Citations number
15
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
JOURNAL OF PEDIATRICS
ISSN journal
00223476 → ACNP
Volume
135
Issue
3
Year of publication
1999
Pages
375 - 378
Database
ISI
SICI code
0022-3476(199909)135:3<375:TPHD>2.0.ZU;2-E
Abstract
Serum phenylalanine concentrations decreased in 4 patients with hyperphenyl alaninemia after loading with tetrahydrobiopterin. There were no abnormalit ies in urinary pteridine excretion or in dihydropteridine reductase activit y. 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.