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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
1Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.
The Journal of Pediatrics
|September 15, 1999
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.