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Carrier Study
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Author(s): Dr. Justine Keathley
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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.
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YouTube
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Alltrna presents preclinical data demonstration proof of concept for first trna development candidate
(English)
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Author(s): Alltrna Press Release on prnewswire
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Link
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Why should I get genetic testing?
(English)
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Author(s): NORD, NPKUA
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PKU-SSIS - Adolescent
(English)
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Author(s): Clinical Outcomes Solutions (COS)
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Description: The PKU-SSIS will help researchers understand the patient experience with PKU. To help develop the questionnaire, we would ask adolescents with PKU and their parents/guardians to participate in two online surveys.
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Flyer
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PKU-SSIS - Adult
(English)
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Author(s): Clinical Outcomes Solutions (COS)
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Description: The PKU-SSIS will help researchers assess symptoms and impacts on daily living and understand the patient experience of living with PKU. If you are eligible, we will ask you to participate in two online surveys sent to you two weeks apart.
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Flyer
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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)
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Author(s): Feillet, Francois, JIMD - Journal of Inherited Metabolic Disease
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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.
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Podcast
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Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease
(English)
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Author(s): Shao Ching Tu, Marium Khan, Katie Wolfe, Sakil S Kulkarni, Elizabeth Toolan, Dorothy K Grange
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Description: Abstract
Maple syrup urine disease (MSUD) is an inborn error of metabolism characterized by the accumulation of branched-chain amino acids (leucine, isoleucine, and valine) caused by a defect in the branched-chain alpha-keto acid dehydrogenase complex. Liver transplant is an effective therapy for MSUD, and patients can usually tolerate a regular diet after transplant without symptomatic metabolic decompensation. Most post-transplant patients do not follow a sick-day diet. We report a case of a 7-year-old male with MSUD Type IA, status post-liver transplant at 2 years of age, who presented with profound encephalopathy following poor oral intake and vomiting for 3 days. Broad laboratory workup was significant for hyperleucinosis and an unrevealing infectious workup. We conducted a review of eight post-liver transplant MSUD patients followed at Washington University in St. Louis. The review revealed that plasma amino acids were generally not checked during intercurrent illnesses in this patient cohort. While most of our patients have not had documented encephalopathy, one of the patients with epilepsy had a seizure during a gastrointestinal illness. Based on the review of the literature and from our center's experience, acute metabolic decompensation with intercurrent illnesses in MSUD patients after liver transplant appears to be rare. This case report raises awareness that patients with MSUD are still at risk of developing metabolic crisis post-liver transplant and provides additional insight into the risk factors associated with metabolic decompensation in this patient cohort.
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Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an Lamino acid-based product
(English)
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Author(s): Abrar Turki,Sylvia Stockler-Ipsiroglu,Sandra Sirrs,Jennifer Branov,Taryn Bosdet,Rajavel Elango
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Description: Phenylketonuria (PKU) is caused by phenylalanine hydroxylase deficiency. Treatment is primarily a low-Phe diet combined with L-amino acid based products (L-AA). Protein requirements in adults with PKU have not been directly determined. A formula with glycomacropeptide (GMP) and low phenylalanine is available, yet untested for optimal protein synthesis.
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Pan Canadian Guidance for NBS
(English)
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Author(s): Canada Drug Agency
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Description: Pan Canadian Guidance for Newborn screening: Building the Foundations for Early Detection and Diagnosis of Conditions
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Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial
(English)
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Author(s): Muntau, Ani; Longo, Nicola; Ezgu, Fatih, Schwartz, Ida Vanessa D; Lah, Melissa; Bratkovic, Drago, Smith, Neil; MacDonald, Anita; Kiykim, Ertugrul; Zori, Roberto; Campistol Plana, Jaume; Bélanger-Quintana, Amaya; Lund, Allan; Guilder, Laura;
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Description: https://pubmed.ncbi.nlm.nih.gov/39368841/
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