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What we know that could influence future treatment of phenylketonuria
Author(s) -
Sarkissian C. N.,
Gámez A.,
Scriver C. R.
Publication year - 2009
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-008-0917-7
Subject(s) - human genetics , metabolic disease , phenylketonurias , medicine , pediatrics , phenylalanine , intensive care medicine , genetics , biology , amino acid , gene
Summary Phenylketonuria (PKU), a Mendelian autosomal recessive phenotype (OMIM 261600), is an inborn error of metabolism that can result in impaired postnatal cognitive development. The phenotypic outcome is multifactorial in origin, based both in nature, the mutations in the gene encoding the l ‐phenylalanine hydroxylase enzyme, and nurture, the nutritional experience introducing l ‐phenylalanine into the diet. The PKU story contains many messages including a framework to appreciate the complexity of this disease where phenotype reflects both locus‐specific and genomic components. This knowledge is now being applied in the development of patient‐specific therapies.