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  1. Frequency of blood phenylalanine monitoring and point-of-care home blood phenylalanine monitoring devices

    Blood phenylalanine (Phe) remains the acknowledged biochemical marker for monitoring treatment ... with phenylketonuria (PKU). In many European centres, blood Phe monitoring is usually conducted by either blood spots collected at home by ... Patients with PKU require regular and consistent blood Phe monitoring throughout life, with patients/caregivers receiving timely ...

  2. Frequently Asked Questions about PKU

    ... ability to break down an amino acid called Phenylalanine ( Phe ) found in foods containing protein. High Phe may trigger brain-related problems throughout life. In infants, the ... brain without dietary management. In adults, higher blood Phe levels may lower intelligence and response times; lead to irritability, ...

  3. SSIEM Congres report

    ... and metabolism Article Variability in blood Phe levels a factor in PKU Measurement of the standard deviation (SD) of blood phenylalanine ( Phe ) levels in patients with PKU may be a useful tool for assessing the Phe ...

  4. Short Summary of the SSIEM Annual Symposium, 2018

    ... and L-threonine) with or without partial phenylalanine ( Phe ) restrictions were compared with 1) Phe restrictions only of varying severity or 2) a normal diet (in total, 7 ...

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

    ... in those patients who are responsive, their high blood- Phe levels are reduced to more acceptable levels,' the professor said. ... patient taking sapropterin will synthesize Tyr from Phe , as a product of the transformation of Phe . With PEG-PAL there is ...

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

    ... trial studied 261 pegvaliase-naïve patients with blood Phe >600 μmol/L who were randomized to receive either 20 or 40 mg/day ... 24 months, just over half the participants achieved blood Phe ≤120 μmol/L – that is, below the upper limit of normal in the ...

  7. 2013 International Congress of Inborn Errors of Metabolism

    ... and lead to a 30-80% reduction of blood phenylalanine ( Phe ) levels. To further support this approach, genotyping is then crucial to ... recent evidence supports the continuation of keeping low Phe levels for good and durable neurological outcomes in adulthood by ...

  8. Highlights of ESPKU annual meeting 2013

    ... and the cardiac defects resulting from high phenylalanine ( Phe ) levels and growth deficit from insufficient protein supply. The optimal target blood Phe levels are 120-360 μmol/l and they should be monitored frequently and ...

  9. Mode of action of BH4 beyond blood Phe control

    ... Mode of action of tetrahydrobiopterin beyond blood Phe control Nenad Blau Video of Mode of action of tetrahydrobiopterin beyond blood Phe control Nenad Blau Topics Phenylketonuria ...

  10. Perspective interview - K Michael Gibson

    ... other large AA neuropathies, like PKU. ‘Both Leu and Phe are large neutral AAs ( LNAA ) and both move across the BBB on the same ... into the brain so I thought there must be a way to target Phe and reduce it in the brain. If we found it then that would just give us a ...

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