Imagine being forced to say no to a child crying for more food at supper. Sadly, Margie Fischer doesn't have to imagine it; that was normal life at her family's dinner table for years. Her daughter Maggie, now 20, suffers from phenylketonuria (PKU), a genetic disease that means her body can't tolerate anything more than a low-protein diet.
PKU is described by scientists as an autosomal recessive genetic disease that is characterized by a deficiency in an enzyme called phenylalanine hydroxylase (PAH).
Without PAH, the body cannot metabolize the amino acid phenylalanine. It then builds up in the blood, crosses the bloodbrain barrier and causes severe brain damage. Fortunately, PKU can be detected at birth in blood tests, and was one of the first treatable genetic diseases. From infancy, PKU sufferers are restricted to a low-protein diet to avoid the worst complications of the condition. This diet is essential during childhood to prevent damage to the brain while it is still growing; however, it is now also recommended for life to optimize school performance, concentration and the ability to think clearly.
"When Maggie was a little child, we would give her vegetables and we could give her, say, two little sprigs of broccoli," Fischer said. "She would be crying at the dinner table that she wanted more broccoli," Fischer said. "Saying no to a kid who wants more broccoli brought tears to my eyes. It was so sad."
However, help may now be on the way. A new pharmaceutical being developed by researchers at McGill University and the McGill University Health Centre (MUHC) along with colleagues at the Scripps Research Institute and BioMarin Pharmaceutical Inc. is offering PKU sufferers the hope of being able to eat a normal, protein-rich diet. Their preclinical evaluation study was published in December in the Proceedings of the National Academy of Sciences.
"The problem is that the PKU dietary modification is extre
|Contact: Mark Shainblum|