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  1. Perspective interview - Niels Gregersen

    ... enzymes or enzyme pathways’ the professor told us. The gene genie ‘But that all changed when the genes for MCAD and the other ... there have been disappointments. You know the case of gene therapy in the beginning of the 90s. The view was “Now we can treat many ...

  2. 1st European Phenylketonuria Group (EPG) Symposium - Advances and challenges in PKU

    ... retardation. Thanks to newborn screening and early dietary therapy, mental retardation is now rarely seen in PKU. As a consequence of this ... Thus, new approaches such as enzyme replacement therapy, gene therapy, large neutral amino acids ( LNAA ), and tetrahydrobiopterin ...

  3. 4th European Phenylketonuria Group Symposium

    ... cases by a mutation in the phenylalanine hydroxylase (PAH) gene, there are more than 600 mutations characterised to date. In addition, the ... PKU management.   BH4 for under 4? BH4 therapy is efficient and has been demonstrated to be safe for children aged ...

  4. Perspective interview - Nicola Longo (PEG-PAL)

    Prof Nicola Longo discusses the potential of PEG-PAL therapy Work to evaluate clinically the use of pegylated recombinant ... to place the enzyme back in the liver. People have attempted gene therapy for this condition; in animal models it works very well but it is ...

  5. SSIEM Congres report

    ... pegylated recombinant phenylalanine ammonia lyase (PEG-PAL) therapy, serving as an adjunct to dietary treatment, has the potential to ... markers for oxidative stress and blood Phe levels. Is gene therapy for PKU patients in sight now? Dr Cary Harding of the ...

  6. Highlights from PKU: Advancing the dream - 2018 NPKUA Conference, July 5-8, Atlanta, GA USA

    ... human amnion epithelial cells (hAEC) for use in cellular therapy. Their unique immunologic properties allow hAEC to be transplanted ... OR, summarized her recent success using CRISPR/Cas9-mediated gene editing to correct hyperphenylalaninemia in neonatal Pah enu2 mice, ...

  7. 4th European Phenylketonuria Group (EPG) Symposium

    ... by  Søren W. Gersting (Germany)  who explained that PAH gene mutations induce misfolding proteins, whose function is repaired by drugs, ... biogenic amines and specific cell-enzyme activities. Therapy requires diet, sapropterin, neurotransmitters precursors, and folates. ...

  8. Perspective interview - Aurora Martinez

    ... to restore some, or all function to an enzyme affected by a gene mutation. These have great potential as therapies for PKU and other IEMs, ... BH4 , is now licensed as sapropterin for use as a therapy for PKU. However, it needs to be remembered that BH4is itself a ...

  9. 5th European Phenylketonuria Group Symposium 'Advances and Challenges in PKU'

    ... leading to misfolding proteins, altered metabolism, and gene modifications with cytotoxicity. Targeting oxidative stress reactions, ... studies performed with rAV-PEG-PAL, enzyme substitution therapy for PKU. Its weekly subcutaneous injection seemed highly efficient in ...

  10. Recommended reading – key published papers from 2018 so far

    ... the FDA decision to license this novel enzyme substitution therapy for adults with PKU. Other papers of note include a retrospective ... seven pathogenic SNPs in the phenylalanine hydroxylase gene in 23 families. The ARMS-LFA concordance rate of the genotyping results ...

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