Friday, January 16, 2009

New Drug Holds Out Promise Of Normal Diet For Sufferers Of Devastating PKU Genetic Disease

I usually don't show articles like this, where the results haven't been shown to work in humans. Too many end up being false hope. But I'd really like to be able to show some positive news, and this seems very promising.


http://www.sciencedaily.com/releases/2009/01/090114132734.htm

ScienceDaily (Jan. 17, 2009)
...
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 blood–brain 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.
...
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."

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