As reported in QS Higher Education News, scientists at the Institute of Living Systems of the IKBFU and Kemerovo State University said they have improved a potential treatment option for PKU: the medication L-phenylalanine ammonium-liasis (PAL). This enzyme was previously too unstable to work to treat the condition, but scientists have tinkered with it to make it last longer, making the medication more effective.
Phenylketonuria
Phenylketonuria (PKU) is a rare condition in which a genetic mutation prevents the body from breaking down the amino acid phenylalanine, causing build up. The build up of the acid, taken in when eating protein, causes symptoms to appear shortly after birth. This includes seizures, developmental and intellectual delays, hyperactivity, decreased bone strength, a shrunken head, fair skin and eyes, rashes, musty odor, and heart defects. Catching the disease early is important to treating symptoms before they progress irreversibly. Treatments include special formula, supplements, avoidance of high protein foods, close monitoring, and the medication Kuvan, which reduces phenylalanine in the blood.
The Updated Drug
The studies on PAL have been going on for over three years, in which they found the PAL treatment to be incredibly promising. But the enzyme’s instability causes it to be broken down too quickly for the treatment to work. The director of the Institute of Living Systems, Olga Babich said to QS that the enzyme
“quickly dissolves in the acidic environment of the stomach before having had time to produce a positive effect. Therefore, scientists have developed a stable capsule shell for PAL.”
Their new version allows the enzyme to carry out its duty before it is broken down.
The researchers focused on making sure their results were interpreted properly because the reaction can look quite different in vitro (in a test tube) vs in vivo (on a human subject). The scientists suggest that hopefully the results could mean the enzyme may be a suitable treatment for not only PKU but other related conditions as well.
