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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Administration, Oral
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Adolescent
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Antioxidants / therapeutic use*
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Biopterins / analogs & derivatives*
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Biopterins / therapeutic use
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Child
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DNA Mutational Analysis
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Dihydropteridine Reductase / urine
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Drug Monitoring
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Female
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Humans
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Male
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Mutation / genetics
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Neonatal Screening
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Phenylalanine / blood
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Phenylalanine Hydroxylase / deficiency*
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Phenylalanine Hydroxylase / genetics
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Phenylketonurias / diagnosis*
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Phenylketonurias / drug therapy*
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Phenylketonurias / genetics
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Phenylketonurias / metabolism
Substances
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Antioxidants
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Biopterins
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Phenylalanine
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Phenylalanine Hydroxylase
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Dihydropteridine Reductase
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sapropterin