Abstract
Phenylketonuria (McKusick 26160, 26163, 26164) is caused by a genetic defect in the enzyme system that catalyzes the conversion of phenylalanine to tyrosine. The enzyme system involves two enzymes, phenylalanine hydroxylase (EC 1.14.16.1) and dihydropteri-dine reductase (EC 1.6.99.7), and a reduced cofactor 6R-L-erythro-5,6,7,8-tetrahydrobiopterin (Curtius et al., 1979; Kaufman, 1983).
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References
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Lykkelund, C., Lou, H.C., Rasmussen, V., Güttler, F., Niederwieser, A. (1985). Biopterin, Neopterin and Tyrosine Responses to Combined Oral Phenylalanine and Tetrahydrobiopterin Loading Tests in Two Normal Children and in a Girl with Partial Biopterin Deficiency. In: Addison, G.M., Bartlett, K., Harkness, R.A., Pollitt, R.J. (eds) Inherited Disorders of Vitamins and Cofactors. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-8019-1_19
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DOI: https://doi.org/10.1007/978-94-011-8019-1_19
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