Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
case_series · Level IV
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- Record sourced from PubMed, PMID 10484807.
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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.
Medical subject headings
- Antioxidants
- Biopterins
- Phenylalanine Hydroxylase
- Phenylketonurias