NATIONAL PKU ALLIANCE HONORS DR. RICHARD KOCH AND DR. CHARLES ROBERT SCRIVER

FOR CONTRIBUTIONS TO THE IDENTIFICATION AND TREATMENT OF PKU

Announcement made at sold-out inaugural NPKUA conference

Dallas, TX – January 18, 2010 – The National PKU Alliance (NPKUA), the only national organization dedicated to supporting those affected by the genetic disorder phenylketonuria (PKU), named Dr. Charles Robert Scriver and Dr. Richard Koch its first PKU Heroes for their groundbreaking work in identifying individuals with PKU and developing effective treatments for the disorder.

“Dr. Scriver and Dr. Koch are pioneers who have graced the PKU community with extraordinary and legendary service for decades,” said Richard Michaux, Chairman of NPKUA. “Their work is proof that an individual can make a dramatic positive change, and it is a challenge to all of us to live up to their example.”

Dr. Charles Robert Scriver

Dr. Scriver, one of the world’s leading experts on PKU, has spent more than 40 years researching inborn errors of metabolism and training generations of biochemical geneticists to follow in his footsteps. Currently the Alva Professor Emeritus of Human Genetics in the Faculties of Medicine and Science at McGill University in Toronto, Dr. Scriver is working on an enzyme substitution therapy for the treatment of PKU that could dramatically enhance options for many individuals with PKU who now must follow extremely restricted diets.

 “PKU has great historical importance. It was the first genetic disease to benefit from a treatment. It made us realize that treatment is actually possible for some forms of genetic disease,” said Dr. Scriver.

Dr. Richard Koch

After discovering that mental retardation caused by PKU could be prevented if treatment was provided in time, Dr. Koch became a tireless advocate for mandatory newborn screening for PKU and other metabolic disorders – screening that has enabled nearly every case of PKU to be caught and treated before permanent damage occurs. Later in his career, Dr. Koch began focusing on how adults with PKU, particularly pregnant women and those born before regular newborn screening was initiated, were managing their condition.

 “Thanks to the work of pioneers like Dr. Koch, a diagnosis that once meant severe developmental disability and life-threatening complications can now be managed so effectively that individuals that stay on their diet are indistinguishable from those who don’t have PKU,” said Mr. Michaux.

“High Hopes” Conference

Drs. Scriver and Koch were honored at “High Hopes”, the inaugural NPKUA conference, held in Dallas, TX. The sold-out event attended by more than 330 people from 38 states and three countries, brought together individuals with PKU, their families, clinicians and researchers. Presentations and sessions focused on current PKU treatments and management techniques, as well as promising research that may lead to a cure for this challenging genetic disorder. 

“This event was a success by every measure possible,” noted NPKUA Executive Director Christine Brown. “The ideas shared and connections made at this conference have given all of us renewed energy to tackle the issues ahead, including securing improved health insurance coverage for PKU treatments, and working toward a cure.”

About PKU

PKU, or phenylketonuria (pronounced fen-il-Key-to-New-ree-uh) is a lifelong genetic disorder in which a deficient enzyme prevents the body from metabolizing an essential amino acid, called Phenylalanine (Phe), which is found in most foods, including meat, bread, eggs, dairy, nuts and some fruits and vegetables.  When left untreated, PKU patients who consume too much Phe are at risk for severe neurological complications, including IQ loss, memory loss, concentration problems, mood disorders, and in some cases, severe mental retardation.  PKU affects approximately 13,000 people in the U.S. and 50,000 people worldwide.

To manage their disorder and avoid neurological complications, PKU patients must reduce their blood Phe levels by adhering to a Phe-restricted diet, which requires patients to monitor their daily intake.  A Phe-restricted diet is supplemented with medical foods and specially produced low-protein foods.

About the National PKU Alliance

Established in 2008, the National PKU Alliance is a coalition of the many local, state and regional organizations that support PKU families. The National PKU Alliance is dedicated to improving the lives of individuals and families affected by PKU, through research, education, support and advocacy, while ultimately seeking a cure. 
 

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