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. 1999 Sep;135(3):375-8.
doi: 10.1016/s0022-3476(99)70138-1.

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

S Kure  1 , D C Hou, T Ohura, H Iwamoto, S Suzuki, N Sugiyama, O Sakamoto, K Fujii, Y Matsubara, K Narisawa
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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

S Kure et al. J Pediatr. 1999 Sep.

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.

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