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  1. SSIEM Congres report

    ... PKU Measurement of the standard deviation (SD) of blood phenylalanine ( Phe ) levels in patients with PKU may be a useful tool for ... in the intestine before its reabsorption. Phenylalanine hydroxylase proteins with higher stability Human phenylalanine hydroxylase ...

  2. Frequently Asked Questions about PKU

    ... a mother affect her fetus during pregnancy? Can high phenylalanine enter the brain in PKU patients? What is the importance of ... with the structure and function of the Phenylalanine Hydroxylase ( PAH ) enzyme. This enzyme is responsible for the transformation ...

  3. e-book: Practical guidelines for the introduction of sapropterin into the management of phenylketonuria - Manual for healthcare professionals

    ... the management of phenylketonuria (PKU) arising due to phenylalanine hydroxylase (PAH) deficiency. Sapropterin is a synthetic,  pharmaceutical ...

  4. 2014 Annual Multidisciplinary European Phenylketonuria Symposium: PKU a lifetime of challenges

    ... featuring heavily within the meeting, optimal blood phenylalanine levels in relation to neurocognitive outcome was widely debated ... aged between 6 to 15 years of age with a lifetime mean blood phenylalanine below 240 µmol/l out performed children with lifetime ... chaperone that stabilizes folding the phenylalanine hydroxylase ( PAH ), but unfortunately not every patient is BH4 ...

  5. Perspectives

    ... discusses the possible benefits and limitations of pegylated phenylalanine ammonia lyase as a potential treatment for PKU and the challenge ... search for the ‘ideal’ chaperone for the phenylalanine hydroxylase enzyme.   Live event 2014 Annual ...

  6. Differential diagnosis of PKU and BH4 deficiency

    ... HPA is known to be caused by deficiencies of the enzyme phenylalanine hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4). 1 The diagnosis ...

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

    ... Work to evaluate clinically the use of pegylated recombinant phenylalanine ammonia lyase ( PEG-PAL ) as a potential therapy for PKU is ... are responsive, as this is dependent on their phenylalanine hydroxylase ( PAH ) genotype. 'Also, even with responsive patients, the ...

  8. Perspective interview - Aurora Martinez

    ... by missense mutations. Prof Martinez began working with phenylalanine hydroxylase ( PAH ) as a postdoctoral researcher. Today, now a Professor of ...

  9. 4th European Phenylketonuria Group Symposium

    ... Although it is caused in 98% of cases by a mutation in the phenylalanine hydroxylase (PAH) gene, there are more than 600 mutations characterised to ...

  10. Perspective interview - Harvey Levy (PKU Heroes)

    ... a number of different genotypes (different mutations) in the phenylalanine hydroxylase gene which relate to different degrees of PKU. ‘For example, ...

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