Abstract:Phenylketonuria (PKU) is a recessive trait that usually produces a clear‐cut Mendelian pattern in individual families. However, the distribution of phenotypes among families is heterogeneous in severity and response to dietary treatment, spanning from “classic” PKU to mild hyperphenylalaninemia (MHP). A series of scientific achievements and technical advances during the last 15 years have greatly improved our understanding of the molecular basis for the phenotypic heterogeneity in PKU. In 1984, the gene encodi… Show more
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