Podcasts about phenylketonuria

Dr Maja Risager Nielsen and Dr François Feillet discuss pregnancy in PKU and two different papers looking at the outcomes in pregnancies with and without BH4 treatment. The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria Maja Risager Nielsen, et al https://doi.org/10.1002/jimd.12600 Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries François Feillet, et al https://doi.org/10.1002/jimd.12724

In this episode, Ayesha spoke with John Finn, PhD, Chief Scientific Officer at Tome Biosciences, a company developing programmable gene insertion (PGI) technology.PGI is a cutting-edge gene editing technology that allows for the insertion of large sequences of DNA with site-specific precision. PGI is a revolutionary approach for the development of potentially curative cell and integrative gene therapies. The technology underlies Tome's investigational candidate therapeutics for autoimmune diseases and the rare metabolic disorder phenylketonuria (PKU) among other conditions.Dr. Finn has over 20 years of experience in the gene therapy space with a focus on genome editing and delivery technologies. He was most recently Vice President of Discovery Research at Codiak Biosciences, where he led the development of a new class of therapeutics based on engineered exosomes. Prior to Codiak, Dr. Finn was Executive Director of Platform Biology and Liver Discovery at Intellia Therapeutics, where he was responsible for the development of viral and non-viral delivery systems and demonstrated the first in vivo systemic administration of CRISPR-based therapeutics. He has served as an American Society of Gene and Cell Therapy (ASGCT) Committee Member for multiple committees. Dr. Finn trained with Pieter Cullis and Ian MacLachlan and received his PhD in Biochemistry and Molecular Biology from the University of British Columbia.Tune in to the episode to learn about Tome Biosciences' innovative gene editing technology and lead therapeutic assets. For more life science and medical device content, visit the Xtalks Vitals homepage. https://xtalks.com/vitals/  Follow Us on Social MediaTwitter: https://twitter.com/Xtalks Instagram: https://www.instagram.com/xtalks/ Facebook: https://www.facebook.com/Xtalks.Webinars/ LinkedIn: https://www.linkedin.com/company/xtalks-webconferences YouTube: https://www.youtube.com/c/XtalksWebinars/featured

Tipperary mother Aoife Murphy tells her story of how her family is living day to day with the rare disease Phenylketonuria, more commonly refered to as PKU.

Please visit answersincme.com/DWQ860 to participate, download slides and supporting materials, complete the post test, and obtain credit. In this activity, an expert in genetics discusses effective communication and treatment strategies for patients with phenylketonuria (PKU), including a patient's perspective. Upon completion of this activity, participants should be better able to: Recognize the challenges adult patients with PKU face that impact quality of life; Discuss the impact of PKU on executive functioning in adult patients with PKU; and Practice effective patient-centered strategies to optimize care for adults with PKU.

You may have seen some scary headlines lately about aspartame and cancer risk – but what is the real story? Should you discard your sugar-free syrup or jello? Dump out your diet sodas? Stop chewing sugar-free gum? In this episode we'll look at the science behind this headline, discovering the facts and dispelling the myths so that you can make informed choices about your diet.Shownotes: yournutritionprofs.com Do you have a nutrition question you'd like us to answer? Let us know! Contact Us on our website or any of the following ways:yournutritionprofs@gmail.comYouTubeInstagram Facebook

When Yolanda Shennan fell pregnant with her first born, Hudson, she envisioned all the foods she would get to cook for him. But only days after he was born, Hudson was diagnosed with a rare genetic disorder called phenylketonuria (PKU) leaving him to lead a life on an incredibly restricted diet to survive. This week, Yolanda shares the many challenges of managing Hudson's diet and how she's raising her son to be the most resilient he can be.  LINKS Check out Hudson's food journey on Instagram https://instagram.com/pku_mumma_melbourne?igshid=MzRlODBiNWFlZA==Check out MDDA Australia https://www.instagram.com/mdda_australia/For more information on Phenylketonuria and other metabolic conditions, and how to support families like Yolanda's, please go to: https://mdda.org.au/ See omnystudio.com/listener for privacy information.

This episode features Brittany Holmes who is a nurse practitioner in the Metabolism Program in the Genetics & Genomics division at Boston Children's Hospital. She is an experienced provider who specializes in caring for patients with inborn errors of metabolism. She serves on the Board of Directors for the National PKU Alliance, the Newborn Screening Translational Research Network (NBSTRN) Steering Committee, and the Rare Disease Clinical Research Network (RDCRN) PHEEFREE Consortium External Advisory Board. She received her Bachelor of Science at Merrimack College, and Master of Science in Nursing from Simmons University in Boston, and is beginning the Doctor of Nursing Practice program at UMass Boston this September. In addition to expanding expertise in the clinical care and research for those with a variety of inborn errors of metabolism, she also has a particular interest in Phenylketonuria (PKU) and newborn screening. Her interest in working with inborn errors of metabolism began at a young age, due to her personal experience as a patient with PKU. After years of speaking at conferences from the patient perspective and receiving care from leading clinicians/researchers in metabolism from the patient side, this ultimately led to seeking a career as a healthcare professional in the specialty. She enjoys being able to offer both the provider and patient perspective, and has a passion for caring for patients in this specialty. Interview Questions:   Could you tell our listeners how you got involved in newborn screening? May is the PKU awareness month. What is the purpose of this rare disease awareness campaign. How can our listeners get involved this month? In the year 2023, it is the 60th anniversary of the newborn screening, and PKU was the first condition to be screened in newborns in 1951. A PKU screening test is a blood test given to newborns one to three days after birth. If babies are identified with PKU, they can benefit from early treatment. However, in the year 2013, there was a study that indicated that there is individual patient, social, and economic factors prevent some adult PKU patients in the US from accessing treatment. Ten years later, do you see any changes? There is a policy in development or in place to address this such as The Medical Nutrition Equity Act (MNEA). Can you tell us listener about this policy? In addition to medical nutrition therapy for PKU patients, what are other new types of treatment and gene therapy for PKU patients? Could you share the latest research effort and clinical trial in this area? You are on the Rare Disease Clinical Research Network (RDCRN) PHEEFREE Consortium External Advisory Board. What is the mission and activities of this network? What resources are available to patients and families with rare disease? Could you share your process for proving medical care to patients with PKU? As an adult with PKU, any advice for new parents who just received a newborn screening positive result for PKU? What do you think prospective parents should know about newborn screening research in screening, diagnosis, and treatment for PKU? You are currently on the Steering Committee at NBSTRN, what efforts do you see NBSTRN can support in NBS Research and your efforts? What does NBS research mean to you?  

Phenylketonuria (or PKU, for short) is a complex condition to treat, yet nutrition takes center stage. If you need a refresher on the nutrition recommendations, we have you covered. Sara and Lyndel cover the basics you need to know to successfully feed your next patient with PKU. Consider this your PKU crash course. Show Notes: How do health care providers diagnose phenylketonuria (PKU)? NIH website. Updated December 1, 2016. Accessed October 12, 2022: https://bit.ly/2USHOti MacDonald A, van Wegberg AMJ, Ahring K, et al. PKU dietary handbook to accompany PKU guidelines. Orphanet Journal of Rare Diseases. 2020;15:171. Schuck PF, Malgarin F, Cararo JH, et al. Phenylketonuria pathophysiology: on the role of metabolic alterations. Aging and Disease. 2015;6(5):390-399.

In this episode, we review the high-yield topic of Phenylketonuria from the Pediatrics section. Follow Medbullets on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets

Gerald Vockley, MD, PhD, Head of the Division of Medical Genetics at UPMC Children's Hospital of Pittsburgh, provides a brief history on newborn screening. Newborn screening began with phenylketonuria (PKU). In the 1960s, Dr. Robert Guthrie showed the value of developing a NBS program to screen for PKU since it was a genetic disease that can lead to permanent damage to the body if not treated early. Since babies with PKU appear normal at birth, NBS is important to establish a proper treatment/diet plan as soon as possible.

$5 Q-BANK: https://www.patreon.com/highyieldfamilymedicine Intro 0:30, Galactosemia 1:36, Hereditary fructose intolerance 3:37, Essential fructosuria 4:21, Glycogen storage diseases 4:43, Period Acid Schiff and Diastase test (PAS-D) 5:57, Von Gierke disease 5:13, Pompe disease 6:33, Cori disease 7:41, Andersen disease 8:16, McArdle disease 8:56, Phenylketonuria 11:05, Alkaptonuria 12:56, Maple syrup urine disease 14:14, Homocystinuria 15:56, Urea cycle disorders 17:35, Fatty acid metabolism disorders 19:09, Lysosomal storage diseases 20:25, Tay-Sachs disease 20:53, Niemann-Pick disease 22:02, Gaucher disease 22:39, Metachromatic leukodystrophy 23:34, Krabbe disease 24:36, Hurler disease and Hunter disease 25:36 Fabry disease 26:28, Lesch-Nyhan syndrome 27:26, Adenosine deaminase deficiency 28:15, Practice questions 28:42

At this point, I cannot tell you how many efforts have come from parents who had a child or children affected by various diseases or illnesses. With her daughter, Hadley, diagnosed with PKU at birth, this is exactly why Julie Tucker established the Alabama PKU Foundation. Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine. Without the enzyme necessary to break down phenylalanine, a dangerous buildup can develop when a person with PKU eats foods that contain protein or eats aspartame, an artificial sweetener. This can eventually lead to serious health problems. For the rest of their lives, people with PKU — babies, children and adults — need to follow a diet that limits phenylalanine, which is found mostly in foods that contain protein. Newer medications may allow some people with PKU to eat a diet that has a higher or an unrestricted amount of phenylalanine. Babies in the United States and many other countries are screened for PKU soon after birth. Although there is no cure for PKU, recognizing PKU and starting treatment right away can help prevent limitations in areas of thinking, understanding and communicating (intellectual disability) and major health problems. On today's show, I have Julie Tucker on to share about her PKU effort and her own experience with her daughter, Hadley.

Guest: Christina Broderick Christina's Story: Christina Broderick is a mother of 2 special needs children with Autism. Her oldest son has a rare disorder called Phenylketonuria (PKU). Phenylketonuria is a rare disorder where individuals cannot break down the amino acid that make up proteins in our food. As a result, the amino acid Phenylalanine builds up in their blood or brain and can lead to brain damage if accommodations aren't made. Her son was the first PKU diagnosis in over 30 years in her town of Lake Havasu City, Arizona. As a result, resources were limited. In 2010, Christina as a 19-year-old mother struggled to find a formula that was safe to feed her son. The formula she eventually found was very expensive! Christina also didn't have a PKU specialist in her town, so she had to travel frequently typically 3.5-hour drives to Phoenix, AZ to see a specialist and get resources suitable for her son to include testing kits. For awhile all her son could eat was Rice Cereal. Christina was contacted by a representative of NORD (National Organization or Rare Disorders). NORD is a nonprofit 501(c)(3) provides assistance programs to help patients obtain lifesaving or life sustaining medication they could not otherwise afford. These programs provide medication, financial assistance with insurance premiums and co-pays, diagnostic testing assistance, and travel assistance for clinical trials or consultation with disease specialists. NORD helped Christina with resources a variety of resources to include food, gas reimbursement, medications, and funding. NORD also introduced her the company CAMBROOKE, which provides nutrition for those with serious medical disorders like PKU. When Christina's son turned 6. NORD also introduced Christina to a new medication from Biomarin that was initially introduced for diabetic persons. The manufactures believed that this drug would be effective for individuals with PKU and began a study which included Christina's son. The medication Kuvan made by BIOMARIN ended up being effective for her son. NORD's pay for all her son's PKU medications. Christina reports that NORD will provide support for undiagnosed individuals as well. Recap: If you have a child with a rare disorder like PKU, reach out to NORD. NORD provides education support programs, funding, and resources for individuals with rare disorders. Cambrooke provides low protein foods for individuals with PKU BIOMARIN provides medication for individuals with PKU. Regardless of your child's diagnosis, you can become your child's number 1 advocate by reaching out to see what resources may be available out there that will help your family through tough times. Christina works at RISE Services, Inc. Rise Services Inc. provides services that support children, adults, and families throughout Arizona, Utah, Oregon, Texas, and Idaho. https://riseservicesincaz.org NORD https://rarediseases.org/for-patients-and-families/help-access-medications/patient-assistance-programs-2/ NORD Mission Statement: NORD, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them.  NORD, along with its more than 300 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. CAMBROOKE https://www.cambrooke.com/ Ajinomoto Cambrooke (formerly Cambrooke Therapeutics an expansion of Cambrooke Foods) was founded in 2000 by Lynn and David Paolella, the parents of two children diagnosed with a rare disease called phenylketonuria (PKU). PKU is one of the few genetic diseases, which is managed almost entirely with nutritional intervention. The Paolellas' goal in forming Cambrooke was simple - to develop improved nutritional therapeutic options for those with serious medical disorders. BIOMARIN https://www.biomarin.com/our-treatments/products/kuvan/ Kuvan® (sapropterin dihydrochloride) Tablets and Powder for Oral Solution is the first FDA-approved medication for phenylketonuria (PKU). Kuvan is a form of BH4, the cofactor of the PAH enzyme, which helps the enzyme break down Phe. Kuvan is to be used in conjunction with a Phe-restricted diet. Subscribe Now & Leave a Review Apple Podcasts, Spotify,  Google Podcast, &  Stitcher Visit our Website www.pureheartstherapy.com Follow Us: Facebook: Pure Hearts Therapy Facebook Group: Autism Family Toolkit Instagram: Purehearts_Therapy

This podcast presents an approach to the diagnosis and management of phenylketonuria. This podcast was developed by Jennifer Butler and Umairah Boodoo, medical students at McMaster University, in collaboration with Dr Hannah Geddie, Assistant Professor and Pediatric Endocrinologist at the Division of Pediatric Endocrinology in the Department of Pediatrics at McMaster University.

Jerry Vockley, MD, PhD, Head of the Division of Medical Genetics at UPMC Children's Hospital of Pittsburgh, gives an update on the phase 2 trial testing SYNB1618 to treat phenylketonuria (PKU).PKU is a rare genetic metabolic disorder that results in reduced activity of phenylalanine hydroxylase that leads to an accumulation of phenylalanine in the body, which can cause significant organ damage, especially in the central nervous system. If left untreated, PKU patients can develop chronic intellectual, neurodevelopmental, and psychiatric disabilities, as well as seizures and heart problems. Lifelong restriction of phenylalanine intake through the diet is needed to prevent buildup of phenylalanine in the body. However, compliance is an issue with this type of diet. Interim data from the phase 2 SynPheny-1 clinical trial was recently presented at the International Congress of Inborn Errors of Metabolism (ICIEM) Meeting. These data show that treatment with SYNB1618, an investigational oral drug, resulted in significant reductions in plasma phenylalanine levels in patients with PKU. In an interim analysis of eight patients, treatment with SYNB1618 was associated with a 40% reduction in D5-phenylalanine absorption after a meal challenge. Treatment with SYNB1618 was also associated with a 20% reduction in mean fasting plasma phenylalanine across all subjects. According to Dr. Vockley, because patients tend to “behave themselves” when they know they will have their phenylalanine levels measured by a professional, patients in the study may have had lower-than-average plasma phenylalanine at baseline. Ultimately, this means that the 20% reduction seen in the interim analysis may be a smaller reduction than what would be seen in real-world settings and that treatment with SYNB1618 may actually lead to an even greater reduction in plasma phenylalanine. Finally, in the interim analysis, treatment with SYNB1618 was associated with >250 µM mean reduction in fasting plasma phenylalanine among responder subjects. Treatment with SYNB1618 was also generally well tolerated, with no serious adverse events and a tolerability profile consistent with results from previous Phase 1 studies.To learn more about PKU and other rare metabolic disorders, visit checkrare.com/diseases/metabolic-disorders/

Episode 391. Investigating myself. Topic: Phenylketonuria.  What is Phenylketonuria (PKU)? How can this genetic disease lead to brain damage and intellectual disability? How is PKU tested and treated such that brain damage never occurs?  And am I a carrier of PKU?  Twitter: @3minutelessonEmail: 3minutelesson@gmail.comInstagram: 3minutelessonFacebook: 3minutelessonNew episode every Monday, Wednesday, and Friday! Find us everywhere podcasts are found.

Dr Elaine Murphy and Dr Robin Lachmann of the Charles Dent Metabolic Unit, look after over 400 adults with PKU. They join the podcast to discuss their recent work on long-term outcomes in early-treated Phenylketonuria and to hi-light some of their more interesting findings. Long-term cognitive and psychosocial outcomes in adults with phenylketonuria Lynne Aitkenhead et al https://doi.org/10.1002/jimd.12413

This week we have news on pediatric influenza vaccine guidance; Moderna submit data for their COVID-19 booster dose; There's new FDA warnings for some JAK inhibitors; Trudhesa nasal spray is approved; And the FDA places a clinical hold on a gene therapy for phenylketonuria.

Aspartame is a scary chemical that will for sure kill you. Or so they say. What does the science say? Learn about Phenylketonuria, how to say that word, and what the truth of aspartame along with discussion of problematic legislation on this episode of Science Snacks! --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app Support this podcast: https://anchor.fm/sciencesnacks/support

Phenylketonuria (PKU) is the most common inborn error of metabolism. It is an autosomal recessive condition caused by a disorder of metabolism of an amino acid called phenylalanine. It leads to build up of phenylalanine  in the body which can have serious effects on brain development. Children with PKU can grow and develop normally, if they are carefully monitored and given a diet low in phenylalanine. You don’t want to miss: A case Explaining the condition to families Statistics Aetiology Presentation Complications Investigations Management Links and resources: Follow us on Instagram @yourekiddingrightdoctors Facebook: https://www.facebook.com/yourekiddingrightpod-107273607638323/ Our email is yourekiddingrightpod@gmail.com Make sure you hit SUBSCRIBE/FOLLOW so you don’t miss out on any pearls of wisdom and RATE if you can to help other people find us! (This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)

G6PD Deficiency, Pagets Disease, Phenylketonuria, Rickets review for your Pance, Panre, and Eor’s. --- Support this podcast: https://anchor.fm/scott--shapiro/support

This episode explores Phenylketonuria & Child Development, with our guest Dr. Adele Diamond. We discuss her previous discoveries regarding the disease PKU, research on children with ADHD, as well as her current work exploring three core executive functions. Episode Notes: Piaget's A-not-B task was developed in 1935, the same year as the delayed response task was developed. The main difference between these tasks is that in delayed response, the reward that is hidden on each trial is randomly determined, whereas in A-not-B the reward is always hidden on the same side until the participant is correct twice in a row, then the hiding place is switched to the other side. Dr. Diamond additionally would like to add that there is a connection between her PKU work and ADHD work, because both are based on the dopamine system in the prefrontal cortex having unique properties. In PKU, it is that the PFC dopamine systems turn over dopamine at a faster rate. In ADHD, the PFC dopamine system has a dearth of the dopamine transporter. For more information on the Piaget A-not-B task, delayed response task, and PKU (pdf) For information on special properties of the PFC dopamine system underlying her PKU and ADHD work: For Neuroscientists: (pdf); For the General Public: (pdf)

Christofer and psychiatrist Michael Golding speak about the interaction between creativity and physiology, and mental illness, in this episode of Do Explain. They discuss the evolutionary process of the mind, psychiatry, IQ, the analogy between cancer and schizophrenia, the dangers of cannabis, LSD and MDMA, Internal Family Systems (IFS), and other related topics.Michael Golding is a Board Certified psychiatric physician with more than 20 years of experience treating psychiatrically disordered patients in back wards of psychiatric hospitals, in prisons, and in outpatient clinics. He has also been the Chief Psychiatrist of one of the largest prison system in the country. He completed psychiatric residency training at the University of North Carolina and completed a National Institure of Mental Health Fellowhip in Psychobiology and Psychopharmacology. He is an evolutionary epistemologist and loves the ideas of Charles Darwin, Karl Popper, and David Deutsch and is currently applying them to model knowledge growth in economic systems. He is also writing a book on psychiatric differential diagnosis to help the lay person understand the relationship between general medical and psychiatric practice.Twitter: https://twitter.com/mgoldingmdNotes on discussed syndromes provided by Michael:Klüver Bucy Syndrome: Docility, Fearless, Hypersexual. Stimulation of parts of amygdala in normals creates fear and rage. Activation or inactivation of different brain regions predictably creates different qualia, as experienced by conscious humans.https://en.m.wikipedia.org/wiki/Klüver–Bucy_syndrome (includes bilateral damage to amygdala)Phenylketonuria: IQ varies from completely normal (if severely restrict phenylalanine consumption) to profound intellectual disability (if no dietary restrictions). Is the intellectual disability due to poor ideas (not restricting phenylalanine) or poor genetics (not being able to properly metabolize phenylalanine)? Those with different genetic/psychiatric disorders have varying levels of ability to learn based on differences in their diet. In the case of Phenylketonuria, the more the phenylalanine consumed, the lower the IQ.https://en.m.wikipedia.org/wiki/PhenylketonuriaAngelman's Syndrome: Consistent intellectual understanding of a 3 year old. Stops learning beyond that. So patient has human level understanding, but consistently does not progress intellectually due to physiological interference with learning.https://en.m.wikipedia.org/wiki/Angelman_syndromePrader-Willi: Constant hunger and just a bit of intellectual disability. So similar (in some ways) genetic problem to those with Angelman's Syndrome, but only mild intellectual disability. Differences in hardware/physiology interfere or promote efficiency in learning.REM behavioral disorder: https://www.mayoclinic.org/diseases-conditions/rem-sleep-behavior-disorder/symptoms-causes/syc-20352920Support the podcast at:https://www.patreon.com/doexplain (monthly)https://ko-fi.com/doexplain (one-time)Find Christofer on Twitter:https://twitter.com/ReachChristofer

A fascinating look at Phenylketonuria and applying genetics and the concept of anion gap

Dr Emma Vardy, a Consultant Geriatrician from Salford, UK, explains the findings of a recent JIMD review looking at the impact of phenylketonuria in adulthood. With those who have benefitted from early treatment now approaching their fifth and sixth decades, PKU cannot just be seen as a disease of childhood and more work is needed to look into the long term impact of the condition. Phenylketonuria, co‐morbidity, and ageing: A review Emma R.L.C. Vardy, Anita MacDonald, Suzanne Ford, Denise L. Hofman https://doi.org/10.1002/jimd.12186

Former Google Nutritionist, Stephanie Lasher shares her story of how she became a nutritionist, what it was like to work as a Nutritionist at Google, her work with kids diagnosed with Phenylketonuria and the camps she helps organize to teach nutrition to those kids and their families, and the future of nutrition in the next five to ten years.

Phenylketonuria is better known as Phenylalanine Hydroxylase Deficiency (PAH-D). This genetic condition can have significant implications for the reproductive age woman including adverse pregnancy outcomes and congenital fetal malformations. In April 2020, the ACOG will release a new committee opinion (802) on the management of women with PAH-D. What Maternal serum levels are optimal to prevent adverse obstetrical outcomes? Do these pregnancies require specific fetal evaluation? What are the other health implications of elevated phenylalanine levels? We will answer these questions more in this session.

Dealing with the challenges of Phenylketonuria (PKU) with Pam Kowalczyk

Go online to PeerView.com/UGR860 to view the activity, download slides and practice aids, and complete the post-test to earn credit.In this activity, experts in PKU discuss available adjunctive treatments, which provide an opportunity to lower blood Phe levels while potentially easing dietary restrictions and lessening the burden of this disease. Upon completion of this activity, participants should be better able to: Employ current practice guidelines and standards of care when managing individuals with phenylketonuria (PKU), Identify the challenges associated with dietary therapy in patients with PKU as they transition from childhood to adolescence and into adulthood, Describe the mechanisms of action of available adjunctive treatment approaches for the management of PKU, Assess available data on the efficacy, safety, and tolerability of approved adjunctive pharmacologic therapies for the management of adults with PKU, Apply available adjunctive therapies as part of a personalized approach to the management of adults with PKU.

Go online to PeerView.com/UGR860 to view the activity, download slides and practice aids, and complete the post-test to earn credit.In this activity, experts in PKU discuss available adjunctive treatments, which provide an opportunity to lower blood Phe levels while potentially easing dietary restrictions and lessening the burden of this disease. Upon completion of this activity, participants should be better able to: Employ current practice guidelines and standards of care when managing individuals with phenylketonuria (PKU), Identify the challenges associated with dietary therapy in patients with PKU as they transition from childhood to adolescence and into adulthood, Describe the mechanisms of action of available adjunctive treatment approaches for the management of PKU, Assess available data on the efficacy, safety, and tolerability of approved adjunctive pharmacologic therapies for the management of adults with PKU, Apply available adjunctive therapies as part of a personalized approach to the management of adults with PKU.

Columbus Dispatch reporter Megan Henry speaks with Blaide Woodburn, a 23-year-old Zanesville native, regarding his rare genetic disorder phenylketonuria. During this we learn what this disorder is, why Blaide can’t eat protein without risking brain damage, and what his daily diet consists of. We also hear about the special protein shakes he drinks daily, what kind of medications he takes, and how this rare genetic disorder sparked his passion for science. Finally, we hear about a recent scholarship that Woodburn was awarded for students who have been diagnosed with this disease.

In this episode, Sarah and Jill talk about Phenylketonuria (PKU), a rare inherited disorder that decreases the metabolism of the amino acid phenylalanine, which results in various physical symptoms and mental problems. 5:40 How PKU relates to pregnancy and births 11:05 Food restrictions for people with PKU 17:12 Growing up with PKU 27:37 What people don't understand about PKU 37:57 The PKU community

Go online to PeerView.com/UGR860 to view the activity, download slides and practice aids, and complete the post-test to earn credit.In this activity, experts in PKU discuss available adjunctive treatments, which provide an opportunity to lower blood Phe levels while potentially easing dietary restrictions and lessening the burden of this disease. Upon completion of this activity, participants should be better able to: Employ current practice guidelines and standards of care when managing individuals with phenylketonuria (PKU), Identify the challenges associated with dietary therapy in patients with PKU as they transition from childhood to adolescence and into adulthood, Describe the mechanisms of action of available adjunctive treatment approaches for the management of PKU, Assess available data on the efficacy, safety, and tolerability of approved adjunctive pharmacologic therapies for the management of adults with PKU, Apply available adjunctive therapies as part of a personalized approach to the management of adults with PKU.

Go online to PeerView.com/UGR860 to view the activity, download slides and practice aids, and complete the post-test to earn credit.In this activity, experts in PKU discuss available adjunctive treatments, which provide an opportunity to lower blood Phe levels while potentially easing dietary restrictions and lessening the burden of this disease. Upon completion of this activity, participants should be better able to: Employ current practice guidelines and standards of care when managing individuals with phenylketonuria (PKU), Identify the challenges associated with dietary therapy in patients with PKU as they transition from childhood to adolescence and into adulthood, Describe the mechanisms of action of available adjunctive treatment approaches for the management of PKU, Assess available data on the efficacy, safety, and tolerability of approved adjunctive pharmacologic therapies for the management of adults with PKU, Apply available adjunctive therapies as part of a personalized approach to the management of adults with PKU.

Go online to PeerView.com/UGR860 to view the activity, download slides and practice aids, and complete the post-test to earn credit.In this activity, experts in PKU discuss available adjunctive treatments, which provide an opportunity to lower blood Phe levels while potentially easing dietary restrictions and lessening the burden of this disease. Upon completion of this activity, participants should be better able to: Employ current practice guidelines and standards of care when managing individuals with phenylketonuria (PKU), Identify the challenges associated with dietary therapy in patients with PKU as they transition from childhood to adolescence and into adulthood, Describe the mechanisms of action of available adjunctive treatment approaches for the management of PKU, Assess available data on the efficacy, safety, and tolerability of approved adjunctive pharmacologic therapies for the management of adults with PKU, Apply available adjunctive therapies as part of a personalized approach to the management of adults with PKU.

Go online to PeerView.com/UGR860 to view the activity, download slides and practice aids, and complete the post-test to earn credit.In this activity, experts in PKU discuss available adjunctive treatments, which provide an opportunity to lower blood Phe levels while potentially easing dietary restrictions and lessening the burden of this disease. Upon completion of this activity, participants should be better able to: Employ current practice guidelines and standards of care when managing individuals with phenylketonuria (PKU), Identify the challenges associated with dietary therapy in patients with PKU as they transition from childhood to adolescence and into adulthood, Describe the mechanisms of action of available adjunctive treatment approaches for the management of PKU, Assess available data on the efficacy, safety, and tolerability of approved adjunctive pharmacologic therapies for the management of adults with PKU, Apply available adjunctive therapies as part of a personalized approach to the management of adults with PKU.

Tom Shakespeare challenges stereotypical ideas about creativity and disability, by celebrating five disabled artists, discussing how their impairments fuelled their genius and demonstrating the variety and achievement of disabled lives.Bryan Pearce, a painter from St Ives in Cornwall, was one of the very few people with learning disability who has achieved fame in their own right. He was born with the metabolic disorder Phenylketonuria. Today, all children are tested at birth for PKU, and if they have the genetic mutation, are placed on a special diet, and so grow up unaffected. In 1929, the condition was unknown, and as a result, Bryan Pearce experienced intellectual impairment and other health problems. As a teenager, Bryan was encouraged by his mother and other artists to paint. His obvious talent meant that he attended the St Ives School of Painting during his twenties. Although he painted slowly, producing perhaps one picture a month, he had a long and very successful career, exhibiting throughout the UK. Bryan Pearce was limited in his ability to learn and communicate verbally. But alongside his deficits was a huge talent to see and communicate through art. As he said to his mother: "What would I do if I didn't paint? What would I do?"Producer: Martin Williams.

Clair, who was diagnosed with RA at seventeen days old, talks about her life with this long term condition.

Jack, who was diagnosed with Phenylketonuria at seven days old talks about living with this long term condition.

Transcript -- Jack, who was diagnosed with Phenylketonuria at seven days old talks about living with this long term condition.

Transcript -- Jack, who was diagnosed with Phenylketonuria at seven days old talks about living with this long term condition.

Transcript -- Clair, who was diagnosed with RA at seventeen days old, talks about her life with this long term condition.

Jack, who was diagnosed with Phenylketonuria at seven days old talks about living with this long term condition.

Clair, who was diagnosed with RA at seventeen days old, talks about her life with this long term condition.

Transcript -- Clair, who was diagnosed with RA at seventeen days old, talks about her life with this long term condition.

Patients with phenylketonuria (PKU) have to follow a lifelong phenylalanine restricted diet. This type of diet markedly reduces the intake of saturated and unsaturated fatty acids especially long chain polyunsaturated fatty acids (LC-PUFA). Long-chain saturated fatty acids are substrates of mitochondrial fatty acid oxidation for acetyl-CoA production. LC-PUFA are discussed to affect inflammatory and haemostaseological processes in health and disease. The influence of the long term PKU diet on fatty acid metabolism with a special focus on platelet eicosanoid metabolism has been investigated in the study presented here. 12 children with PKU under good metabolic control and 8 healthy controls were included. Activated fatty acids (acylcarnitines C6-C18) in dried blood and the cholesterol metabolism in serum were analyzed by liquid chromatographic tandem mass spectrometry (LC-MS/MS). Fatty acid composition of plasma glycerophospholipids was determined by gas chromatography. LC-PUFA metabolites were analyzed in supernatants by LC-MS/MS before and after platelet activation and aggregation using a standardized protocol. Patients with PKU had significantly lower free carnitine and lower activated fatty acids in dried blood compared to controls. Phytosterols as marker of cholesterol (re-) absorption were not influenced by the dietary fatty acid restriction. Fatty acid composition in glycerophospholipids was comparable to that of healthy controls. However, patients with PKU showed significantly increased concentrations of y-linolenic acid (C18:3n-6) a precursor of arachidonic acid. In the PKU patients significantly higher platelet counts were observed. After activation with collagen platelet aggregation and thromboxane B(2) and thromboxane B(3) release did not differ from that of healthy controls. Long-term dietary fatty acid restriction influenced the intermediates of mitochondrial beta-oxidation. No functional influence on unsaturated fatty acid metabolism and platelet aggregation in patients with PKU was detected.

Mon, 25 May 2009 12:00:00 +0100 https://edoc.ub.uni-muenchen.de/10166/ https://edoc.ub.uni-muenchen.de/10166/1/Berlepsch_Juliana_von.pdf Freiin von Berlepsch, Juliana

#99 - Phenylketonuria