Molecular Genetics and Gene Therapy Aspects of Phenylalanine Hydroxylase (PAH) Related Hyperphenylalaninemias
نویسندگان
چکیده
Volume 5 • Issue 6 • 1000e125 J Genet Syndr Gene Ther ISSN: 2157-7412 JGSGT, an open access journal 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 measured in hyperphenylalaninemia patients [1].
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