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Documents - The Science
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Carrier Study (English)
Author(s): Dr. Justine Keathley Rating: No Rating   Read Reviews  
Description: Are you a Family Member of Someone with PKU? Help to Advance Research! ?? Researchers at the University of Guelph want to better understand if there are potential health and cognitive impacts of phenylalanine consumption (found in high-protein foods/beverages and aspartame) in PKU carriers.
  PDF  |  YouTube
Why should I get genetic testing? (English)
Author(s): NORD, NPKUA Rating: No Rating   Read Reviews  
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Dr Francois Feillet discussing the final results of the KAMPER study reporting on the long-term safety and efficacy of Kuvan (BH4) (English)
Author(s): Feillet, Francois, JIMD - Journal of Inherited Metabolic Disease Rating: No Rating   Read Reviews  
Description: Dr Francois Feillet discussing the final results of the KAMPER study reporting on the long-term safety and efficacy of Kuvan (BH4) in patients with phenylalanine hydroxylase deficiency (phenylketonuria). Francois makes an excellent case for the use of this treatment in 'responders', and even some patients who don't respond so well, and explains a little of what might be coming for everyone else.
  Podcast
Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria (English)
Author(s): Khan Sophia M., Heister Robyn R, Keathley Justine R. Rating: No Rating   Read Reviews  
Description: Phenylketonuria (PKU) is an autosomal recessive genetic condition that results in reduced enzymatic functioning within the phenylalanine hydroxylase (PAH) pathway, which is involved in the metabolism of phenylalanine (Phe) into tyrosine (Tyr). Without dietary intervention, individuals with PKU exhibit significantly elevated levels of Phe, which is presumed to cause severe neurological dysfunction and other associated health risks. Carriers of PKU are heterozygotes for a PAH gene mutation and are typically described in the literature as “unaffected.” However, decades of existing research challenges this classical thinking and it is plausible that these individuals currently classified as carriers may present with an intermediate phenotype or may be “moderately affected.”
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Amino Acids in our Rares (English)
Author(s): CanPKU+; Chute, Tanya Rating: No Rating   Read Reviews  
  PDF  |  PNG  |  PNG  |  PDF
20 Amino Acids (English)
Author(s):  Rating: No Rating   Read Reviews  
  PNG
HCU - We've come a long way (English)
Author(s): HCU Network America Rating: No Rating   Read Reviews  
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Newborn screening for homocystinurias: Recent recommendations versus current practice (English)
Author(s): Keller, Rebecca; Chrastina, Petr; Pavlíková, Markéta; Gouveia, Sofía; Ribes, Antonia; Kölker, Stefan; Blom, Henk J.; Baumgartner, Matthias R.; Bártl, Josef; Dionisi-Vici, Carlo; Gleich, Florian; Morris, Andrew A.; Kožich, Viktor; Huemer, Martina; E-HOD Rating: No Rating   Read Reviews  
Description: Purpose: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations
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enfant PCU a lecole et garderie handout Vitalite (English)
Author(s): Vitalite NB Rating: No Rating   Read Reviews  
Description: Vitalité (NB) nous a également fourni son guide de conseils pour la garderie et l’école afin que nous le partagions avec vous !
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