New Treatments for Phenylketonuria Aim to Loosen Reigns on Strict Diet
Biotechs have developed enzyme replacements and genetically modified probiotics to treat patients with the rare metabolic disorder. (Source: The Scientist)
Source: The Scientist - May 29, 2018 Category: Science Tags: News Analysis Source Type: news

OHSU to participate in clinical trial for potentially 'life-transforming' drug
Oregon Health& Science University is part of a clinical trial for a drug approved this week for a rare and serious genetic disorder called phenylketonuria, or PKU. The Food and Drug Administration approved Palynziq, a daily enzyme injection for adults with PKU. The disease affects about 1 in 10,000 to 15,000 people in the U.S. All newborns are screened for the disease, among others, using a “heel stick” blood draw within 24 to 48 hours after birth. Pat ients are unable to break down an amino… (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - May 25, 2018 Category: Biotechnology Authors: Elizabeth Hayes Source Type: news

OHSU to participate in clinical trial for potentially 'life-transforming' drug
Oregon Health& Science University is part of a clinical trial for a drug approved this week for a rare and serious genetic disorder called phenylketonuria, or PKU. The Food and Drug Administration approved Palynziq, a daily enzyme injection for adults with PKU. The disease affects about 1 in 10,000 to 15,000 people in the U.S. All newborns are screened for the disease, among others, using a “heel stick” blood draw within 24 to 48 hours after birth. Pat ients are unable to break down an amino… (Source: bizjournals.com Health Care:Physician Practices headlines)
Source: bizjournals.com Health Care:Physician Practices headlines - May 25, 2018 Category: American Health Authors: Elizabeth Hayes Source Type: news

FDA Approves Palynziq for Phenylketonuria
FRIDAY, May 25, 2018 -- Palynziq (pegvaliase-pqpz) has been approved by the U.S. Food and Drug Administration to treat phenylketonuria, or PKU. Palynziq is a novel enzyme therapy for adult patients with PKU with uncontrolled blood phenylalanine... (Source: Drugs.com - Pharma News)
Source: Drugs.com - Pharma News - May 25, 2018 Category: Pharmaceuticals Source Type: news

FDA OKs Novel Enzyme Therapy for Rare Disease Phenylketonuria FDA OKs Novel Enzyme Therapy for Rare Disease Phenylketonuria
Pegvaliase-pqpz (Palynziq) helps address a significant, unmet need in phenylketonuria (PKA) patients whose blood levels of PKA cannot be controlled with current treatment options, the FDA says.FDA Approvals (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - May 25, 2018 Category: Consumer Health News Tags: Diabetes & Endocrinology News Source Type: news

New Treatment, Palynziq (Pegvaliase-pqpz), Approved for Rare Disease PKU
FRIDAY, May 25, 2018 -- Palynziq (pegvaliase-pqpz) has been approved by the U.S. Food and Drug Administration to treat phenylketonuria, commonly called PKU. People with the rare yet serious inherited disorder can't break down an amino acid called... (Source: Drugs.com - Daily MedNews)
Source: Drugs.com - Daily MedNews - May 25, 2018 Category: General Medicine Source Type: news

FDA approves BioMarin rare metabolic disorder drug, shares rise
(Reuters) - U.S. regulators on Thursday approved BioMarin Pharmaceutical Inc's Palynziq for adults with phenylketonuria, a rare metabolic disorder, sending shares of the biotechnology company up 3 percent after hours. (Source: Reuters: Health)
Source: Reuters: Health - May 25, 2018 Category: Consumer Health News Tags: healthNews Source Type: news

FDA approves a new treatment for PKU, a rare and serious genetic disease
The FDA today approved Palynziq (pegvaliase-pqpz) for adults with a rare and serious genetic disease known as phenylketonuria (PKU). (Source: Food and Drug Administration)
Source: Food and Drug Administration - May 24, 2018 Category: American Health Source Type: news

FDA Approves Palynziq (pegvaliase-pqpz) for the Treatment of Adults with Phenylketonuria
May 24, 2018 - The U.S. Food and Drug Administration today approved Palynziq (pegvaliase-pqpz) for adults with a rare and serious genetic disease known as phenylketonuria (PKU). Patients with PKU are born with an inability to break down... (Source: Drugs.com - New Drug Approvals)
Source: Drugs.com - New Drug Approvals - May 24, 2018 Category: Drugs & Pharmacology Source Type: news

The woman who could get brain damage from drinking Diet Coke!
Emma Harbage, from Lichfield, Staffordshire, suffers from phenylketonuria - which means her liver is unable to break down phenylalanine, which is found in aspartame. (Source: the Mail online | Health)
Source: the Mail online | Health - April 3, 2018 Category: Consumer Health News Source Type: news

Phenylketonuria (PKU)
(Source: MayoClinic.com Full Feed)
Source: MayoClinic.com Full Feed - October 17, 2017 Category: Consumer Health News Source Type: news

BioMarin Submits Pegvaliase Biologics License Application (BLA) to the U.S. FDA for Treatment of Phenylketonuria (PKU)
SAN RAFAEL, Calif., June 30, 2017 -- (Healthcare Sales & Marketing Network) -- BioMarin Pharmaceutical Inc. (NASDAQ: BMRN) announced that the company submitted a Biologics License Application (BLA) on Friday, June 30, 2017 to the U.S. Food and Drug Admini... Biopharmaceuticals, FDA BioMarin Pharmaceutical, pegvaliase, Phenylketonuria (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - June 30, 2017 Category: Pharmaceuticals Source Type: news

Medical News Today: Phenylketonuria: Symptoms, tests, and treatment
Phenylketonuria is a rare genetic condition that affects how amino acids are broken down in the body. Learn more about how the condition is managed. (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - June 17, 2017 Category: Consumer Health News Tags: Genetics Source Type: news

WATCH: MLB player Mark Melancon discusses his daughter's battle with rare illness
ABC News' Michael Rothman talks to San Francisco Giants pitcher Mark Melancon about his daughters fight with phenylketonuria (PKU). (Source: ABC News: Health)
Source: ABC News: Health - May 9, 2017 Category: Consumer Health News Tags: Entertainment Source Type: news

Designer babies: an ethical horror waiting to happen?
Nearly 40 years since the first ‘test-tube baby’, how close are we to editing out all of our genetic imperfections – and should we even try to do so?Comfortably seated in the fertility clinic with Vivaldi playing softly in the background, you and your partner are brought coffee and a folder. Inside the folder is an embryo menu. Each embryo has a description, something like this:Embryo 78 – male• No serious early onset diseases, but a carrier for phenylketonuria (a metabolic malfunction that can cause behavioural and mental disorders. Carriers just have one copy of the gene, so don’t get t...
Source: Guardian Unlimited Science - January 8, 2017 Category: Science Authors: Philip Ball Tags: Reproduction Science IVF Health Fertility problems Society Embryos Biology Stem cells Medical research Source Type: news

American Gene Technologies Announces Collaboration with...
Jerry Vockley, MD, PhD collaborates with AGT on Phenylketonuria (PKU)(PRWeb May 13, 2016)Read the full story at http://www.prweb.com/releases/2016/05/prweb13414870.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - May 14, 2016 Category: Pharmaceuticals Source Type: news

Hacking Gut Bacteria Could Be The Future Of Medicine
The human gut microbiome -- which includes the community of trillions of bacteria living within our intestines -- has been called one of the next big frontiers in medicine.  In recent years, a growing body of research has shown that the bacteria in our gut exert a powerful influence on our immune and endocrine systems, brain health, mood and cognitive function, and other key biological processes. We know that the balance of good and bad bacteria in the gut can keep us healthy -- or can contribute to disease. Now, the next step for this exciting medical frontier is learning how to leverage the power of the microbi...
Source: Healthy Living - The Huffington Post - April 11, 2016 Category: Consumer Health News Source Type: news

Hacking Gut Bacteria Could Be The Future Of Medicine
The human gut microbiome -- which includes the community of trillions of bacteria living within our intestines -- has been called one of the next big frontiers in medicine.  In recent years, a growing body of research has shown that the bacteria in our gut exert a powerful influence on our immune and endocrine systems, brain health, mood and cognitive function, and other key biological processes. We know that the balance of good and bad bacteria in the gut can keep us healthy -- or can contribute to disease. Now, the next step for this exciting medical frontier is learning how to leverage the power of the microbi...
Source: Science - The Huffington Post - April 11, 2016 Category: Science Source Type: news

Scientists offer new insight on rare genetic condition
(University of Missouri-Columbia) All children are screened for a host of conditions at birth, such as Phenylketonuria, a genetic disorder that is passed by mutated genes from both parents to their offspring. Currently the primary way to manage the disease is through a restricted diet. Now, researchers at the University of Missouri, are using magnetic resonance imaging to learn more about the effects of this disorder on the brain and to assist scientists in developing therapeutic drugs. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - March 22, 2016 Category: Global & Universal Source Type: news

Why Does Aspartame Have a Warning Label?
Discussion Phenylketonuria (PKU) is an autosomal recessive genetic disease. The PAH gene is found on chromosome 12 and has more than 600 mutations associated with it. The incidence varies but PKU is primarily found in Caucasian populations. The PAH gene codes for phenylalanine hydroxylase (PAH) which catalyzes the amino acid phenylalanine (Phe) to tyrosine. PAH uses a cofactor called tetrahydrobiopterin (BH4) in this process. With a deficiency in PAH, Phe accumulates and can cause severe cognitive impairment and global developmental delay, microcephaly, seizures, poor growth and poor skin pigmentation. Tyrosine also decrea...
Source: PediatricEducation.org - March 7, 2016 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Determination of Phenylalanine and Tyrosine by High Performance Liquid Chromatography-Tandem Mass Spectrometry
Hyperphenylalaninemia/phenylketonuria (PKU) is one of the most common inborn errors of amino acid metabolism affecting about 1:15,000 infants in the United States. PKU is an autosomal recessive disorder that if untreated results in mental retardation. The most common cause of PKU is deficiency of the enzyme phenylalanine hydroxylase that converts phenylalanine to tyrosine. Tyrosine deficiency results in impaired synthesis of catecholamines and thyroxine. Less commonly, it can result from defects in the synthesis or regeneration of tetrahydrobiopterin (BH4), an essential cofactor for the enzyme phenylalanine hydroxylase. In...
Source: Springer protocols feed by Imaging/Radiology - November 27, 2015 Category: Radiology Source Type: news

BioMarin to Acquire Rights to Phenylketonuria (PKU) Franchise From Merck Serono
Strengthens and Expands BioMarin's Leadership Position Serving PKU Patients with Rights to Both Kuvan(R) (sapropterin dihydrochloride) and Pegvaliase Beyond North America 2016 Full-year Guidance for Kuvan Expected to be Between $320M-$350M including $70... Biopharmaceuticals, AcquisitionsBioMarin Pharmaceutical, Merck Serono, Kuvan, Phenylketonuria (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - October 1, 2015 Category: Pharmaceuticals Source Type: news

Nutrigenomics: The Diet That Can Change Your DNA
Diet and exercise. The importance of both was known to the earliest humans, but today we know much more about how food and exercise affects our minds and bodies through scientific evidence. In this two-part series, I delve into the latest science behind diet and exercise and how they are ultimately the foundation of optimal health. My last post was on the effects of exercise on the brain; here I explore nutrition: During the winter of 1944-1945, a terrible famine swept through the Netherlands and carried on until liberation in May 1945. During this time, dubbed the "Hongerwinter," the Dutch population's nutritio...
Source: Healthy Living - The Huffington Post - May 5, 2015 Category: Consumer Health News Source Type: news

Ella’s story: Two rare diseases and the NICU roller coaster ride
“Everyone tells you that the NICU is a roller coaster ride. What they don’t tell you is that it’s a customized roller coaster ride just for you. You never know what’s coming at you next,” says Carrie Shea, whose daughter Ella spent her first three months of life in Boston Children’s Hospital NICU. Today, Ella is a “remarkably normal little girl,” says Carrie. It’s quite a feat for the three-year-old who was born with GACI (generalized arterial calcification of infancy), an extremely rare condition with an 85 percent mortality rate, and diagnosed with PKU (phenylketonuri...
Source: Thrive, Children's Hospital Boston - March 5, 2015 Category: Pediatrics Authors: Lisa Fratt Tags: Our patients’ stories Source Type: news

FDA Approves Palynziq for Phenylketonuria
Drug is a novel enzyme therapy for adult patients with PKU with uncontrolled blood Phe concentrations (Source: The Doctors Lounge - Oncology)
Source: The Doctors Lounge - Oncology - November 11, 2014 Category: Cancer & Oncology Tags: Family Medicine, Gynecology, Internal Medicine, Oncology, Pathology, Pharmacy, Institutional, Source Type: news

Woman has rare genetic condition making her allergic to protein 
PhD student Kreseda Smith (pictured), 36, suffers from phenylketonuria (PKU) which means a build-up of protein could leave her with devastating brain and muscle damage. (Source: the Mail online | Health)
Source: the Mail online | Health - November 2, 2014 Category: Consumer Health News Source Type: news

Merck PKU Drug Trial Meets Primary Endpoint
Merck Serono announced that its Phase IIIB SPARK (Safety Pediatric EfficAcy PhaRmacokinetic with Kuvan) study evaluating Kuvan in children less than 4 years old who have phenylketonuria (PKU) has met its primary endpoint. (Source: Pharmaceutical Online News)
Source: Pharmaceutical Online News - April 24, 2014 Category: Pharmaceuticals Source Type: news

BioMarin commences Phase III PKU study of PEG-PAL to treat phenylketonuria
BioMarin Pharmaceutical has commenced a Phase III study of pegylated recombinant phenylalanine ammonia lyase (PEG-PAL) for the treatment of phenylketonuria (PKU), a genetic disorder. (Source: Drug Development Technology)
Source: Drug Development Technology - June 6, 2013 Category: Pharmaceuticals Source Type: news

Karl Blau obituary
iOur friend and former colleague, Karl Blau, who has died aged 84, was a talented and internationally respected biochemist. In 1966, Karl was invited to take charge of a laboratory at the North Carolina School of Medicine in Chapel Hill, where he published important early studies on the metabolites produced by children with inherited metabolic diseases, particularly phenylketonuria.In 1972, he established one of the UK's first prenatal diagnostic laboratories for inherited diseases, at Queen Charlotte's maternity hospital in London. Karl developed a particular interest in the prenatal diagnosis of cystic fibrosis; in the e...
Source: Guardian Unlimited Science - February 19, 2013 Category: Science Tags: Obituaries Biology guardian.co.uk Chemistry Biochemistry and molecular biology Science From the Guardian Source Type: news

Genes and Civil Liberties
Conclusion Although human genetics research and development are usually presented as “advances,” they may also be setting back our civil liberties on many fronts. Chief among the downsides are increased numbers of widely-available databases that correlate many facets of people’s biology, lives, and activities, as well as increasing incidences of loss of privacy and discrimination. While federal legislation and administrative rules have begun to address these problems, private and governmental data mining grows rapidly as new technological formats are developed and a technological rationality (i.e., &ldqu...
Source: ActionBioscience - January 30, 2013 Category: Science Authors: Ali Hochberg Source Type: news

Genes and Civil Liberties
Conclusion Although human genetics research and development are usually presented as “advances,” they may also be setting back our civil liberties on many fronts. Chief among the downsides are increased numbers of widely-available databases that correlate many facets of people’s biology, lives, and activities, as well as increasing incidences of loss of privacy and discrimination. While federal legislation and administrative rules have begun to address these problems, private and governmental data mining grows rapidly as new technological formats are developed and a technological rationality (i.e., &ldquo...
Source: ActionBioscience - January 30, 2013 Category: Biology Authors: Ali Hochberg Source Type: news

Genes and Civil Liberties
Conclusion Although human genetics research and development are usually presented as “advances,” they may also be setting back our civil liberties on many fronts. Chief among the downsides are increased numbers of widely-available databases that correlate many facets of people’s biology, lives, and activities, as well as increasing incidences of loss of privacy and discrimination. While federal legislation and administrative rules have begun to address these problems, private and governmental data mining grows rapidly as new technological formats are developed and a technological rationality (i.e., &ldqu...
Source: ActionBioscience - January 30, 2013 Category: Biology Authors: Ali Hochberg Source Type: news