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New drug holds out promise of normal diet for sufferers of devastating PKU genetic disease
Date:1/14/2009

me," said study first-author Dr. Christineh Sarkissian, a research associate at McGill's Departments of Biology and Human Genetics and the MUHC/Montreal Children's Hospital Research Institute. "It's not a lifestyle choice, it's an obligation, and it's very difficult."

"Maggie needs to eat a special diet which consists largely of drinking an amino acid formula that's very nasty and gritty," Fischer explained. "She can't eat meat, nuts, fish, dairy or grains. And when I say grains, that means no pasta, no bread, no crackers, nothing. So for example, when a typical teen goes out and has a cheeseburger, Maggie can't have the cheese, the meat or the bun. She can have the lettuce and the pickle."

Even individuals who have lived on the restricted PKU diet for years may still suffer health effects into adulthood, Sarkissian explained, especially if they increase their protein intake as they get older.

"The majority of adult PKU patients, depending on how sensitive they are at the blood-brain barrier, will end up suffering from agoraphobia and other reversible conditions that can result from insult to the brain," she said. "The majority of kids who go on to university need to remain on the diet, otherwise they just can't function clearly."

Sarkissian is hopeful that the new injectable treatment she developed with her former supervisor and now colleague, the corresponding author Dr. Charles Scriver Emeritus Professor of Pediatrics and their academic and industrial collaborators will make it possible for PKU patients to eat a more normal diet.

"As we go into clinical trials, we'll see how it works in humans," she said. "Certainly in the animal models we showed that the phenylalanine levels came down to normal. The treatment itself is enzyme therapy, so patients will receive an injection once or twice a week instead of, we hope, needing to be on the diet."

"I've got high hopes about this research," said Fischer. "I coul
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Contact: Mark Shainblum
mark.shainblum@mcgill.ca
514-398-2189
McGill University
Source:Eurekalert

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