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Dihydropteridine reductase deficiency: Non‐response to oral tetrahydrobiopterin load test
Author(s) -
Lipson A.,
Yu J.,
O'Halloran M.,
Potter M.,
Wilken B.
Publication year - 1984
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805806
Subject(s) - tetrahydrobiopterin , hyperphenylalaninemia , metabolic disease , medicine , phenylalanine hydroxylase , phenylketonurias , phenylalanine , endocrinology , chemistry , biochemistry , amino acid , nitric oxide synthase , nitric oxide
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.