March 11, 2021 Sleep Hygiene for Phenylketonuria If you or your child has phenylketonuria (PKU), you may have trouble with sleep due to imbalances in signaling molecules in your body. If you ... Read more
March 4, 2021March 4, 2021 Phenylketonuria and Sleep Phenylketonuria (PKU) is a rare metabolic disorder caused by mutations in a gene that cells use to make an enzyme. This enzyme converts an amino ... Read more
March 3, 2021March 3, 2021 NICE Recommends Kuvan to Treat Children 18 and Younger The National Institute for Health and Care Excellence (NICE) has issued draft guidance that recommends Kuvan (sapropterin), alongside a low-phenylalanine diet, for treating children younger ... Read more
February 26, 2021February 25, 2021 Rare Disease Day ‘Patient Hero’ Raises Awareness Through Fashion Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a ... Read more
February 25, 2021March 6, 2021 Shoshin and Phenylketonuria If you are living with a chronic disease such as phenylketonuria (PKU), a Japanese concept called shoshin may help you view your life and your ... Read more
News Survey Highlights Need to Align Adult PKU Treatment to Improve Patient Outcomes February 24, 2021February 24, 2021 A new survey of six Italian clinics found varying and inconsistent approaches for managing adult ...
News, syndicated Rare Disease Day at NIH, Set for March 1, Growing Year by Year February 23, 2021February 23, 2021 Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place ...
News, syndicated Eurordis Survey: Healthcare Experience Worse for Rare Disease Patients February 19, 2021February 18, 2021 People with rare disorders have a worse healthcare experience than those affected by chronic diseases, ...
Health Insights What Is BH4 and Why Is it Important in Phenylketonuria? February 18, 2021February 18, 2021 BH4 (tetrahydrobiopterin) plays an important role in the activity of the enzyme that is dysfunctional, ...
News Pig Model May Aid Work on PKU Treatments, Including Gene Therapies February 17, 2021February 17, 2021 A first-of-its-kind pig model of phenylketonuria (PKU) has been developed that could be useful in advancing ...
Health Insights I Have PKU. Will I Pass It On to My Children? February 11, 2021February 11, 2021 If you have phenylketonuria (PKU), you may be wondering whether you can pass the disease ...
Pandemic Won’t Stop Rare Disease Day on Feb. 28 February 10, 2021February 11, 2021 Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 ...
NORD’s 6th ‘State Report Card’ Notes Progress, Raises Concerns February 5, 2021February 6, 2021 While progress was made last year on newborn screening and other policy issues critical to ...
Kuvan Safely Aids Growth, Intellect of Youngest Patients Over Long Term, Trial Finds February 3, 2021February 3, 2021
COVID-19 Vaccines Pose Little Risk to Rare Disease Patients, FDA, CDC Say January 29, 2021January 29, 2021
Synlogic Recruiting Adult Patients for Phase 2 Trial of SYNB1618 January 27, 2021January 27, 2021 Synlogic is recruiting patients for a proof-of-concept Phase 2 trial that is investigating SYNB1618, its ...
Liver-targeting Gene Therapy Reduces Extra Phenylalanine in PKU Mice January 20, 2021January 20, 2021
About the PKUDOS Patient Registry January 14, 2021January 14, 2021 BioMarin has set up a registry to monitor phenylketonuria (PKU) patients who have received its ...
NORD Seeks Speakers for 2021 Virtual ‘Living Rare, Living Stronger’ Forum January 11, 2021January 11, 2021
News Inaccurate Protein Content Found on Most Food Labels in UK January 6, 2021January 6, 2021 Food labels on supermarket websites in the U.K. have high rates of misleading, incomplete, and ...
Health Insights Prevalence of Phenylketonuria? December 17, 2020December 17, 2020 Phenylketonuria (PKU) cases have been reported to different degrees in countries across the world. There ...
News New CRISPR-Cas9-created Pig Model Better Mimics PKU Symptoms in Humans December 16, 2020December 16, 2020 Using the CRISPR-Cas9 gene-editing tool, researchers created a pig model of phenylketonuria (PKU) that better ...
Health Insights About the PKU Patient Registry December 10, 2020December 10, 2020 Phenylketonuria (PKU) is a rare genetic disorder that can lead to a host of neurological ...
News New Paper-based Sensor Could Help Monitor PKU, Study Finds December 9, 2020December 9, 2020 A novel sensor that combines plant enzymes and nanomaterials can be used to measure levels ...
FAQs FAQs About Palynziq for Phenylketonuria December 3, 2020December 3, 2020 Palynziq (pegvaliase-pqpz) is a medication by BioMarin for the treatment of phenylketonuria (PKU) in adults ...
News, syndicated NORD Push for Rare Disease Advisory Councils Focus of Dec. 16 Public Meeting December 2, 2020December 1, 2020 To empower and equip members of the rare disease community to engage state leaders in ...
News, syndicated Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe November 26, 2020November 25, 2020 The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and ...
News Pfizer Invests in Homology Medicines, Supporting Gene Therapies for PKU November 25, 2020November 25, 2020 Homology Medicines, which specializes in gene therapies for rare diseases and is developing two potential such therapies — HMI-102 ...
