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  1. Differential diagnosis of PKU and BH4 deficiency

    ... hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4). 1 The diagnosis of BH4 deficiencies is straight forward and should be ... in DHPR-deficient patients), all forms of HPA caused by BH4 deficiency can be identified and differentiated 2 (Table 1). Table 1: ...

  2. Frequently Asked Questions about PKU

    ... What is the importance of tetrahydrobiopterin (BH4) in PKU? What is the mode of BH4 action in PKU patients? Is BH4 deficiency the same disease as PKU? Is mutation analysis (DNA testing) ...

  3. Perspective interview - Maria Gizewska

    ... with milder forms of hyperphenylalaninemia, patients with BH4 deficiency , maternal PKU, and adults with PKU as well. PKU in Poland ...

  4. Optimizing PKU Treatment by Assessment of Sapropterin (BH4) Responsiveness

    ... PKU management Impact of different factors on BH4 responsiveness results Key considerations of BH4 ... and follow-up of patients with phenylalanine hydroxylase deficiency”. Dr. Bélanger Quintana has been working in the field of Inborn ...

  5. 4th European Phenylketonuria Group (EPG) Symposium

    ... treatment options, like sapropterin dihydrochloride (also BH4 ), on monoamine neurotransmitters metabolism in the brain of PKU patients. ... CNS neurotransmitters in PKU Management of BH4 deficiency Social and financial management of PKU Amino acid status ...

  6. Perspective interview - Søren Gersting

    ... Here, his initial research focus was the mechanism of BH4 interaction with the PAH protein. He has published a number of papers ... be the medium-chain acyl-Coenzyme A dehydrogenase (MCAD) deficiency, the deficiency in the metabolism of medium chain acyl-CoAs; another ...

  7. Oral communications

    ... and metabolism Article Predicting BH4 responsive phenotypes It is possible to quantify the loss of ... (AChE) alterations might contribute to the intellectual deficiency observed in HPA patients. Ms Schuck presented results from ongoing ...

  8. 3rd European Phenylketonuria Group (EPG) Symposium - Advances and challenges in PKU

    ... The recent introduction of sapropterin dihydrochloride ( BH4 ) into therapeutic use is likely to contribute to the management of PKU ... Feillet (France)     Vitamin   Vitamin B12 deficiency in phenylketonuria and impact on brain function John Walter, UK ...

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

    ... (PKU) arising due to phenylalanine hydroxylase ( PAH ) deficiency. Sapropterin is a synthetic,  pharmaceutical  formulation  of  naturally  occurring 6R- tetrahydrobiopterin ( BH4 ),  a  cofactor  of  the  hydroxylase  enzymes  for phenylalanine, ...

  10. Perspective interview - Ida Schwartz

    ... also screen for other conditions, for example, biotinidase deficiency and congenital adrenal hyperplasia. Each state has at least one ... product unless they purchase it privately. Sapropterin ( BH4 ) is not approved for treatment of PKU in Brazil at present.’ Has the ...

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