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Efficiency of long‐term tetrahydrobiopterin monotherapy in phenylketonuria
Author(s) -
Steinfeld R.,
Kohlschütter A.,
Ullrich K.,
Lukacs Z.
Publication year - 2004
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 - 10.1023/b:boli.0000037351.10132.99
Subject(s) - tetrahydrobiopterin , phenylalanine hydroxylase , phenylalanine , hyperphenylalaninemia , inborn error of metabolism , medicine , metabolic control analysis , regimen , endocrinology , dietary therapy , phenylketonurias , pediatrics , metabolic disease , chemistry , biochemistry , amino acid , nitric oxide synthase , nitric oxide , insulin
Summary: Phenylketonuria, an inborn error of phenylalanine metabolism, occurs with a frequency of about 1 in 10 000 births and is treated with a strict dietary regimen. Recently, some patients with PKU have been found to show increased tolerance towards phenylalanine intake while receiving tetrahydrobiopterin (BH 4 ) supplementation. We have treated two infants with BH 4 ‐responsive PKU with BH 4 for more than 2 years. No additional dietary control was required to maintain blood phenylalanine concentrations in the desired range. Both children have shown normal development. Generally, our results suggest that BH 4 treatment might be an option for some patients with mild PKU, as it frees them from dietary restrictions and thus improves their quality of life.

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