Abstract
In a child with dihydropteridine reductase deficiency (McKusick 26163) none of four separate oral tetrahydrobiopterin loading tests resulted in a decrease of the serum phenylalanine concentration. This test cannot be recommended for screening hyperphenylalaninaemic patients for dihydropteridine reductase deficiency.
MeSH terms
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Biopterins* / analogs & derivatives
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Female
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Fibroblasts / enzymology
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Humans
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Infant
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Lymphocytes / enzymology
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NADH, NADPH Oxidoreductases / deficiency*
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Phenylalanine / blood
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Phenylketonurias*
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Pteridines*
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Tyrosine / blood
Substances
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Pteridines
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Biopterins
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Tyrosine
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Phenylalanine
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NADH, NADPH Oxidoreductases
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sapropterin