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Carrier Study
(English)
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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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PKU Testing - Letter to Families
(English)
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Author(s): BC Children's Hospital
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Why should I get genetic testing?
(English)
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Author(s): NORD, NPKUA
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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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Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria
(English)
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Author(s): Khan Sophia M., Heister Robyn R, Keathley Justine R.
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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)
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Author(s): CanPKU+; Chute, Tanya
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PNG
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PNG
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PDF
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20 Amino Acids
(English)
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Author(s):
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PNG
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HCU - We've come a long way
(English)
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Author(s): HCU Network America
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PPTX
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Newborn screening for homocystinurias: Recent recommendations versus current practice
(English)
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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
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Description: Purpose: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations
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