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Premium Efficiency of long‐term tetrahydrobiopterin monotherapy in phenylketonuria
Steinfeld R.,
Kohlschütter A.,
Ullrich K.,
Lukacs Z.
Publication year2004
Publication title
journal of inherited metabolic disease
Resource typeJournals
PublisherKluwer Academic Publishers
Abstract 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.
Subject(s)amino acid , biochemistry , chemistry , dietary therapy , endocrinology , hyperphenylalaninemia , inborn error of metabolism , insulin , medicine , metabolic control analysis , metabolic disease , nitric oxide , nitric oxide synthase , pediatrics , phenylalanine , phenylalanine hydroxylase , phenylketonurias , regimen , tetrahydrobiopterin
SCImago Journal Rank1.462

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