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  • The PKU Book

    Phenylketonuria and Other Hyperphenylalaninemias

    Edited by Nenad Blau, Jerry Vockley, Anita MacDonald, Francjan van Spronsen ...
    Series series Medicine (R0)
    Phenylketonuria (PKU) is the most frequent inborn error of the amino acid metabolism (prevalence about 1:10,000 newborns). These autosomal-recessive inherited variants lead to deficiency in the PAH enzyme which hydroxylates phenylalanine to tyrosine, with the help of a cofactor (tetrahydrobiopterin; BH4), molecular oxygen, and non-heme iron. The metabolic picture is highly heterogenous as it ... Read more

    $205.99 CAD