Abstract
Recently, BH(4)-responsive phenylalanine hydroxylase (PAH) deficiency was reported in patients with specific mutations in the PAH gene, and it was suggested that BH(4) responsiveness may be determined by the respective genotypes. We now report on three patients with PAH deficiency and the same genotype but different responses to standardized BH(4) loading. Our results suggest that BH(4) responsiveness in PAH deficiency is at least partly independent from PAH genotype.
Copyright 2001 Academic Press.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Substitution
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Biopterins / administration & dosage*
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Biopterins / analogs & derivatives
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Genotype
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Heterozygote
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Humans
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Infant, Newborn
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Mutation
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Phenylalanine / blood
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Phenylalanine / drug effects
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Phenylalanine Hydroxylase / deficiency
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Phenylalanine Hydroxylase / genetics*
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Phenylketonurias / enzymology
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Phenylketonurias / genetics*
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Pterins / urine
Substances
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Pterins
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Biopterins
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Phenylalanine
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Phenylalanine Hydroxylase