Abstract

Hyperphenylalaninemias (HPAs; OMIM 261600) are related to phenylalanine hydroxylase (PAH; OMIM *612349) deficiency; a hepatic enzyme, and are characterized by moderate and/or high levels of the amino acid phenylalanine and reduction of tyrosine. High levels of phenylalanine and low of tyrosine characterize phenylketonuria (PKU; OMIM 261600) disease whereas moderately increased levels of phenylalanine and/or reduced or normal levels of tyrosine are usually

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