High-tech protection Oct 3, 2008
The model is based on the first routine genetic test, for phenylketonuria, or PKU, which causes severe mental retardation unless a strict diet is followed. Montana first began screening for PKU in 1973, at which time it also began treating for hypothyroidism, which causes a severe form of retardation called cretinism. (Helena Independent Record, MT)
Katzen: Beacon Hill Roll Call Aug 7, 2008
Patrick also vetoed a provision providing that $75,000 of the funds be used for the operation of the New England Connection for PKU and Allied Disorders, an organization that provides patient and family education and support for people diagnosed with phenylketonuria. Override supporters said that the $511,634 is needed to help fund these public awareness programs that help people and save lives. (Wakefield Observer, MA)
Beacon Hill Roll Call: Legislators climb aboard the override express Aug 5, 2008
Patrick also vetoed a provision providing that $75,000 of the funds be used for the operation of the New England Connection for PKU and Allied Disorders, an organization that provides patient and family education and support for people diagnosed with phenylketonuria (PKU). According to the group s Web site, PKU is a rare, inherited condition that prevents your body from metabolizing phenylalanine (Phe), which is one of the amino acids that are joined together to form proteins. (Dover Sherborn Tab, MA)
Drug gives PKU sufferers chance to eat protein Jul 26, 2008
girl was born with PKU, or phenylketonuria, a genetic disease that leaves the patient unable to process protein because of a deficiency of the enzyme needed to break it down. That enzyme is called PAH, short for phenylalanine hydroxylase. (Scripps Howard News Wire)
Firm thrives making drugs for rare conditions Jul 13, 2008
In late 2007, the Food and Drug Administration approved Kuvan for another genetic disorder called phenylketonuria ... About 50,000 people in the developed world suffer from phenylketonuria, with as many as 13,000 in the United States ... It is also developing a second drug for phenylketonuria called PEG-PAL, for those who don't respond to Kuvan. (San Francisco Chronicle -- Business)
Bringing Stability To The Protein Defective In Phenylketonuria Jul 7, 2008
ScienceDaily (July 6, 2008) Phenylketonuria (PKU) is an inherited disease characterized by progressive mental retardation and seizures because the individual is deficient in the protein PAH. ... Angel L. Pey et al. Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria. (Science Daily)
More of this story Jul 6, 2008
B.J. Pennington, 16, has PKU (phenylketonuria), a genetic disorder characterized by an inability of the body to utilize phenylalanine, an essential amino acid. To survive, Pennington must avoid eating dairy products, meat, nuts and other foods that contains protein. (Searcy Daily Citizen, AR)
Exotic illnesses afflict American poor Jun 25, 2008
For example, nearly every hospital screens infants for the genetic disease phenylketonuria, but only two states require screening for toxoplasmosis, a parasitic infection passed from mother to child at birth ... Toxoplasmosis affects 10 times as many newborns as phenylketonuria does, but toxoplasmosis is mostly limited to inner cities and poor Southern areas. (Los Angeles Times)
Diets that eat away at illnesses Jun 12, 2008
Examples include diets low in simple carbohydrates (starches, sugars) for people with diabetes; low-fat diets high in fruits, vegetables and nuts for people with cardiovascular disease; phenylalanine-free diets for the genetic disorder phenylketonuria; low-sodium diets for hypertension; and low-fat diets for gallstones. Some parents of children with autism spectrum disorders are putting their children on diets that eliminate foods with gluten and/or casein in the hopes that the diet may help,... (Racine Journal Times, WI)
Three Required Newborn Tests May 18, 2008
Phenylketonuria (PKU) is a recessive genetic disorder. An enzyme needed to metabolize amino acids is deficient. (Suite101.com)
Drug Therapy For PKU Reverses Heart Damage, Study Shows May 15, 2008
The common denominator in both phenylketonuria (PKU) and cardiac hypertrophy is the chemical tetrahydrobiopterin (BH4). In PKU, this enzyme coworker helps break down the molecule phenylalanine whose buildup is toxic to the brain. (Science Daily)
Alternative Sweeteners Are Increasing By 8% A Year May 14, 2008
For this reason, saccharin has been prohibited for decades in Canada, and the same is true for cyclamate in the USA, and aspartame is contraindicated in some people, such as those who suffer from phenylketonuria. However, Micol clarified to SINC that it has still not been possible to demonstrate conclusively the likely toxicity and carcinogenicity of synthetic sweeteners even after decades of research. (Science Daily)
Sexual liberation: The answer to all our tax needs May 2, 2008
"Except for the rare physical abnormalities - such as Huntington's disease, cystic fibrosis, phenylketonuria and achondroplasia - there is no evidence, at the present time, of a direct causative link between a single gene and any complex psychosocial behavior, including sexual preference.Evolutionary geneticist R. C. Lewontin stated this explicitly in his 1984 work, "Not in Our Genes. ""Up to the present time no one has ever been able to relate any aspect of human social behavior to any... (Waterloo-Cedar Falls Courier)
Cystic fibrosis screening begins this month Mar 28, 2008
The PKU test, which looks for phenylketonuria and other disorders, will now be used to look for 37 different disorders. Eggers said the cystic fibrosis test is now included and won t require any extra testing. (Princeton Bureau County Republican, IL)
Charitable Foundation golf tourny planned Mar 20, 2008
- New England Connection for Phenylketonuria (PKU) and Allied Disorders, a non-profit organization run by a board of volunteers for the sole purpose of providing support, food requests, activities, educational programs, family weekends and a bi-annual conference for adults and children, in New England, afflicted with PKU, a rare genetic imbalance which, if left untreated, will cause irreversible brain damage. - Juvenile Diabetes Research Foundation, local chapter in Hamden, Conn. (Ivorytown Beacon, CT)
Task Force Confirms Newborn Screening Advice Mar 15, 2008
Screening babies for hypothyroidism and phenylketonuria (PKU), as the conditions are called, is currently mandated in all 50 states, the US Preventive Services task force notes in a "Reaffirmation Recommendation Statement" released in the Annals of Family Medicine. The USPS first recommended that all newborns be screened for congenital hypothyroidism and PKU in 1996. (MEDLINEplus)
Unique Whey Protein Is Promising Supplement For Strict PKU Diet Feb 5, 2008
4, 2008) Individuals with a rare genetic condition known as phenylketonuria, or PKU, receive a difficult-to-follow prescription. They must severely limit their consumption of protein, completely avoiding mealtime staples such as meat, cheese and even bread. (Science Daily)
New drug helps some with rare disorder eat without fear Jan 20, 2008
have a rare genetic disorder called phenylketonuria, or PKU. It causes mental retardation and other neurological problems unless people maintain a strict low-protein diet. The first drug for the condition, approved last month, is allowing many people with PKU to eat more foods. (La Crosse Tribune, WI)
Fairview Specialty Pharmacy Signs Contract With BioMarin for Distribution of Kuvan(TM) Jan 9, 2008
MINNEAPOLIS, Jan. 8 /PRNewswire/ -- Fairview Specialty Pharmacy today announced that it has been selected by BioMarin Pharmaceutical, Inc. to be a participating pharmacy in the specialty pharmacy limited distribution network for Kuvan(TM) (sapropterin dihydrochloride) Tablets, the first specific drug therapy approved for the treatment of phenylketonuria (PKU) ... About Kuvan Kuvan(TM) (sapropterin dihydrochloride) Tablets is indicated to reduce blood phenylalanine (Phe) levels in patients with... (PR Newswire)
About 300 companies appearing at S.F. biotech conference Jan 6, 2008
The Novato company is still celebrating the December approval of its drug Kuvan, a treatment for a defect in protein metabolism called phenylketonuria that can cause brain damage, seizures and other serious consequences if not controlled. As Kuvan brings an anticipated influx of revenue, BioMarin expects to become profitable in the second half of 2008. (San Francisco Chronicle -- Business)
Did she miss a chance to boost her chances? Dec 31, 2007
He has a rare disorder, phenylketonuria, or PKU, that can cause mental retardation. It was detected through newborn screening and he is in good health. (Globe and Mail)
Thursday's Biggest Stock Stars Dec 15, 2007
With Kuvan in line to be reviewed soon by the FDA, and very positive phase III results, the likelihood is high that approval will be secured for this treatment for Phenylketonuria (PNU). This will give Biomarin a third highly profitable drug on the market. (MSNBC -- Business)
Kuvan Sanctioned for PKU Dec 15, 2007
THURSDAY, Dec. 13 (HealthDay News) -- A drug called Kuvan (sapropterin dihydrochloride) has been approved for treatment of a rare genetic disorder called tetrahydrobiopterin (BH4)-responsive phenylketonuria (PKU), the U.S. Food and Drug Administration said Thursday. The disorder, which causes mental retardation, smaller brain size, delayed speech and other neurological problems, occurs in one of every 12,000 to 15,000 live births in the United States. (MEDLINEplus)
Nationwide Children's Hospital involved in expanded access program for treatment of PKU Nov 6, 2007
Nationwide Childrens Hospital announced today its involvement in an expanded access program for sapropterin dihydrochloride, or sapropterin, an investigational treatment for phenylketonuria (PKU), a rare genetic metabolic disorder that, if left unmanaged in infants and children, can result in severe mental retardation. Currently, there are eight patients enrolled in the expanded access program at Nationwide Childrens. (EurekAlert!)
At S$70, TMS test can save a baby Aug 31, 2007
And yet phenylketonuria (PKU), a rare condition that causes harmful build-up of an amino acid in the blood, can be overlooked despite its easy detection by administering a S 70 test. Doctors are now urging for broader adoption of the non-compulsory tandem mass spectrometry (TMS) test, which screens for 29 inborn defects, to avoid potentially tragic scenarios. (Channel NewsAsia, Singapore)
Most Babies Receive Recommended Newborn Tests, But Half A Million Still Not Screened For Serious Genetic Disorders Jul 15, 2007
Massachusetts had been a leader in newborn screening when, in the early 1960s, it became the first state to routinely screen all newborns for PKU (phenylketonuria), an inherited metabolic disorder that, if untreated, causes severe mental retardation. But today Massachusetts requires screening for only 12 of the 29 core conditions. (Science Daily)
Newborn testing expands to more states, disorders Jul 11, 2007
In the early 1960s, Massachusetts became the first state to screen all newborns for PKU (phenylketonuria), a metabolic disorder. Massachusetts Department of Public Health spokeswoman Donna Rheaume says in an e-mail that 98% of children born in the state since 1999 have been screened for all of the conditions on the American College of Medical Genetics' list. (USA Today -- News)
Parents Support Genetic Testing, DNA Biobanks, Study Finds Jun 29, 2007
Each year through state newborn screening programs, about 4 million newborns in the United States undergo testing for several genetic diseases including sickle cell, cystic fibrosis, and phenylketonuria (PKU). Using just a few drops of blood, genetic testing may indicate whether a child is at risk for developing a disease later in life. (Science Daily)
BioMarin widens access to drug awaiting approval Jun 19, 2007
Kuvan is a treatment for the genetic disorder phenylketonuria, or PKU. Novato-based BioMarin (NASDAQ: BMRN) is developing it with and turned in an application to the FDA for approval last month. FDA rules allow companies to distribute a drug not yet approved if it's a possible treatment for a serious disease that has no other treatment. (San Francisco Business Journal)
Lower Premiums Can Cost More in Long Run With Maternity Care Jun 14, 2007
Some policies, for instance, restricted coverage for PKU (Phenylketonuria) formula and for treatment for congenital or genetic birth defects such as cleft palate. The details of the newer plans are also often difficult to figure out and language is often vague or ill-defined (such as "complications of pregnancy"). (MEDLINEplus)
Heartbroken, but not beaten Jun 2, 2007
Screening newborns for diseases began in the 1960s when Dr. Robert Gutherie developed a test for phenylketonuria and a system for collection and transportation of blood samples on filter paper. Today, newborn testing is regulated by individual states, concentrating on diseases that can be cured or effectively treated if diagnosed early. (FOX59, IN)
Doctor promotes blood tests for babies Apr 27, 2007
At first, only phenylketonuria, a disease that causes brain damage, was tested. The program expanded to eight diseases in the late 1960s and did not change for two decades until new technology allowed the lab to perform more tests on a single hole punch. (Albany Times Union)
Scientists Map DNA of Research Monkeys Apr 16, 2007
About one in 14,000 babies is born with PKU, or phenylketonuria, meaning their bodies can't process a protein found in most foods called phenylalanine. Without treatment, PKU causes mental retardation. (Forbes)
Monkeying with genes to learn human nature Apr 14, 2007
The consortium also found cases where a normal macaque protein resembled a diseased one in people: for instance, one linked to phenylketonuria, a disease that may lead to mental retardation and brain damage. Primates include humans, apes, monkeys and prosimians -- little animals like lemurs that survive only on the island of Madagascar, and are the most ancient members of the primate family tree. (The Australian)
Macaque genome decoded Apr 13, 2007
One example found is phenylketonuria (PKU) which can lead to brain damage and mental retardation because the human lacks an important enzyme. The research indicates macaques diverged from our ancestors 25 million years ago. (BBC News -- Science)
FROM THE EDITOR: Hope blew in on Blizzard of 1978 Feb 11, 2007
"Mr. and Mrs. Unger, I have some bad news to tell you. Your daughter has a very rare genetic disorder. It's called phenylketonuria, PKU, and it's the thing we test for at birth, a little prick we make on the back of the heel when a baby is born. That's why she has a Band-Aid on her heel. About one in 25,000 babies are born with it, and I don't know much about it, except that it often causes severe mental retardation, emotional disorders and serious heart problems.". We sat in stunned silence. (The Standard-Times, MA)
High rates of autism alarming Feb 9, 2007
The CDC says it's likely there are multiple causes "due to complex interaction of genetic and environmental factors." For most cases, it adds, the cause is not known although it tends to occur more frequently than expected with certain other medical conditions, including Fragile X syndrome, tuberous sclerosis, congenital rubella and untreated phenylketonuria (PKU). Utah had the most striking difference in the rates of autism among males vs. females, at 7 to 1. (Deseret News)
Parents: Newborn blood tests against God's will Jan 28, 2007
Screening may reveal serious defectsMany of the diseases covered in the bill are deficiencies, and one, phenylketonuria, can result in severe mental retardation without diet restrictions starting at birth. One in every 837 babies born last year tested positive for one of the 34 diseases the state tests for, said Julie Miller, manager of Nebraskas Newborn Screening Program. (MSNBC -- Health)
Missouri lawmakers get lesson on PKU from a 4-year-old sufferer Jan 25, 2007
his will help provide children with phenylketonuria (PKU) and other metabolic disorders with the special formula they need, Shields said. f the formula is not available to them, they will develop irreversible developmental disabilities. (Jefferson City News Tribune, MO)
READ MORE > Jan 25, 2007
Many of the diseases covered in the bill are deficiencies, and one, phenylketonuria, can result in severe mental retardation without diet restrictions starting at birth. "The damage does start occurring right away," Miller said. (Sioux City Journal)
Cystic fibrosis screening added to tests done on Alaska babies Jan 24, 2007
Today, the state health department requires screening Alaska babies for about 30 genetic and metabolic disorders including phenylketonuria (often called PKU) and hypothyroidism, said Thalia Wood, who oversees the state's newborn metabolic screening program. These problems are caused by an absence of enzymes or hormones. (Anchorage Daily News)
Bill Would Give Religious Exemption For Some Infant Screening Jan 11, 2007
One -- phenylketonuria -- can result in severe mental retardation without diet restrictions starting at birth. Sen. (7 KETV Omaha)
BioMarin to Present at the JPMorgan 25th Annual Healthcare Conference Jan 8, 2007
Investigational product candidates include Phenoptin(TM) (sapropterin dihydrochloride), a Phase 3 product candidate for the treatment of phenylketonuria (PKU), and 6R-BH4 for cardiovascular indications, which is currently in Phase 2 clinical development for the treatment of poorly controlled hypertension. Naglazyme(R) is a registered trademark of BioMarin Pharmaceutical Inc. Aldurazyme(R) is a registered trademark of BioMarin/Genzyme LLC. Contacts: Investors and Media Eugenia Shen BioMarin... (PR Newswire)
BioMarin Initiates Phase 2 Clinical Study of 6R-BH4 in Peripheral Arterial Disease Jan 5, 2007
6R-BH4 is the same enzyme cofactor currently being evaluated in BioMarin's Phenoptin(TM) (sapropterin dihydrochloride) for phenylketonuria (PKU) ... Investigational product candidates include Phenoptin(TM) (sapropterin dihydrochloride), a Phase 3 product candidate for the treatment of phenylketonuria (PKU), and 6R-BH4 for cardiovascular indications, which is currently in Phase 2 clinical development for the treatment of poorly controlled hypertension. (PR Newswire)
