Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU)
Phenylketonuria (PKU) due to recessively inherited phenylalanine hydroxylase (PAH) deficiency is among the most common inborn errors of metabolism. Dietary therapy begun early in infancy prevents the major manifestations of the disease but shortcomings to treatment continue to exist including lifelo...
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| Format: | Article |
| Language: | English |
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World Scientific Publishing
2019-12-01
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| Series: | Molecular Frontiers Journal |
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| Online Access: | http://www.worldscientific.com/doi/pdf/10.1142/S2529732519400145 |
| _version_ | 1819041780647067648 |
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| author | Cary O. Harding |
| author_facet | Cary O. Harding |
| author_sort | Cary O. Harding |
| collection | DOAJ |
| description | Phenylketonuria (PKU) due to recessively inherited phenylalanine hydroxylase (PAH) deficiency is among the most common inborn errors of metabolism. Dietary therapy begun early in infancy prevents the major manifestations of the disease but shortcomings to treatment continue to exist including lifelong commitment to a complicated and unpalatable diet, poor adherence to diet in adolescence and adulthood, and consequently a range of unsatisfactory outcomes, including neuropsychiatric disorders, frequently develop. Novel treatments that do not strictly depend upon dietary protein restriction are actively sought. This review discusses the potential for and the limitations of permanently curative cell-directed treatment of PKU, including liver-directed gene therapy and gene editing, if initiated during early infancy. A fictional but realistic vignette of a family with a new baby girl recently diagnosed with PKU is presented. What is needed to permanently cure her? |
| first_indexed | 2024-12-21T09:30:26Z |
| format | Article |
| id | doaj.art-622da3411a0640b58436d37cc40b8155 |
| institution | Directory Open Access Journal |
| issn | 2529-7325 2529-7333 |
| language | English |
| last_indexed | 2024-12-21T09:30:26Z |
| publishDate | 2019-12-01 |
| publisher | World Scientific Publishing |
| record_format | Article |
| series | Molecular Frontiers Journal |
| spelling | doaj.art-622da3411a0640b58436d37cc40b81552022-12-21T19:08:46ZengWorld Scientific PublishingMolecular Frontiers Journal2529-73252529-73332019-12-013211012110.1142/S252973251940014510.1142/S2529732519400145Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU)Cary O. Harding0Department of Molecular and Medical Genetics, Oregon Health & Science University, Mailstop L-103, 3181 Sam Jackson Park Rd., Portland, OR 97239, USAPhenylketonuria (PKU) due to recessively inherited phenylalanine hydroxylase (PAH) deficiency is among the most common inborn errors of metabolism. Dietary therapy begun early in infancy prevents the major manifestations of the disease but shortcomings to treatment continue to exist including lifelong commitment to a complicated and unpalatable diet, poor adherence to diet in adolescence and adulthood, and consequently a range of unsatisfactory outcomes, including neuropsychiatric disorders, frequently develop. Novel treatments that do not strictly depend upon dietary protein restriction are actively sought. This review discusses the potential for and the limitations of permanently curative cell-directed treatment of PKU, including liver-directed gene therapy and gene editing, if initiated during early infancy. A fictional but realistic vignette of a family with a new baby girl recently diagnosed with PKU is presented. What is needed to permanently cure her?http://www.worldscientific.com/doi/pdf/10.1142/S2529732519400145phenylketonuriaphenylalanine hydroxylase deficiencyphenylalaninehepatocyte transplantationliver-directed gene therapygene editing |
| spellingShingle | Cary O. Harding Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU) Molecular Frontiers Journal phenylketonuria phenylalanine hydroxylase deficiency phenylalanine hepatocyte transplantation liver-directed gene therapy gene editing |
| title | Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU) |
| title_full | Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU) |
| title_fullStr | Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU) |
| title_full_unstemmed | Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU) |
| title_short | Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU) |
| title_sort | prospects for cell directed curative therapy of phenylketonuria pku |
| topic | phenylketonuria phenylalanine hydroxylase deficiency phenylalanine hepatocyte transplantation liver-directed gene therapy gene editing |
| url | http://www.worldscientific.com/doi/pdf/10.1142/S2529732519400145 |
| work_keys_str_mv | AT caryoharding prospectsforcelldirectedcurativetherapyofphenylketonuriapku |