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  1. Differential diagnosis of PKU and BH4 deficiency

    ... enzyme phenylalanine hydroxylase ( PAH ) or its cofactor tetrahydrobiopterin ( BH4 ). 1 The diagnosis of BH4 deficiencies is ... 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

    ... the brain in PKU patients? 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. 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 ... PKU 1-6 ; neither will it address the overall management of tetrahydrobiopterin deficiency. This practical guideline is written for all ...

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

    ... Blau, PhD, is head of the laboratory for the diagnosis of tetrahydrobiopterin and neurotransmitter disorders at the University Children's ... and follow-up of patients with phenylalanine hydroxylase deficiency”. Dr. Bélanger Quintana has been working in the field of Inborn ...

  5. 3rd European Phenylketonuria Group (EPG) Symposium - Advances and challenges in PKU

    ... Feillet (France)     Vitamin   Vitamin B12 deficiency in phenylketonuria and impact on brain function John Walter, UK ... (UK); Francjan van Spronsen (Netherlands)   Tetrahydrobiopterin Research: Back to the Future Nenad Blau, Switzerland ...

  6. 2nd Dietitians’ Workshop

    ... issues arising from combining diet with sapropterin (tetrahydrobiopterin BH4) treatment working effectively with, educating and ... are present in high levels in many supplements to counter deficiency, they are not necessarily in a form that is readily bioavailable. ...

  7. XXV ESPKU Conference

    ... management from early life throughout adulthood: ruling out tetrahydrobiopterin deficiency, evaluating sapropterin responsiveness, performing genotype and ...