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Diseases » Phenylketonuria » Research

Cure Research for Phenylketonuria

Treatments for Phenylketonuria

Treatments to consider for Phenylketonuria may include:

Low-phenylalanine diet - a very strict diet to avoid particular substances.
- Avoid high protein foods
- Avoid aspartame - an artificial sweetener.
- Avoid diet sodas - many contain aspartame
Strict diet during pregnancy - avoids damage to the fetus.
Reduced phenylalanine in diet
more treatments...»

Medical Research Breakthroughs and Phenylketonuria

Drug therapy for PKU reverses heart damage.: The common denominator in both phenylketonuria (PKU) and cardiac hypertrophy is the chemical tetrahydrobiopterin (BH4). In PKU, this enzyme coworker helps break down the molecule phenylalanine whose buildup is toxic to the brain. In the heart, BH4 helps build the chemical nitric oxide, which is needed for normal heart function and neutralizing toxic chemicals, called oxygen free radicals. Doctors have used BH4 and diets that exclude phenylalanine for almost a decade to treat PKU, a so-called inborn error of metabolism that if left untreated causes irreversible brain damage. The Hopkins team, working with mice, found that treatment with BH4 stabilizes the pumping function of failing, enlarged hearts and dramatically shrinks the muscle size in a relatively short timeframe of just over a month. The results show for the first time the pivotal role played by BH4 in stopping and reversing the weakening and damage done – even in severe cases – to the heart muscle as a result of hypertension and subsequent hypertrophy. This key evidence may help in developing new therapies that stop and reverse hypertrophy, preventing the disease from leading to end-stage heart failure and keeping affected individuals from needing heart-assist pumps or a treatment of last resort, the heart transplant. The Hopkins team says that BH4, whose tissue levels are degraded in stressed hearts from hypertrophy and the muscle's weakened state, works by recoupling the enzyme nitric oxide synthase. Researchers say this is the only form of the enzyme that functions normally, making more nitric oxide rather than free radicals. Testing of another potent antioxidant, Tempol did not counter the effects of hypertrophy like BH4 and failed to recouple nitric oxide synthase. This tells about that BH4's targeted action is key to its benefits.

Cure Research discussion for Phenylketonuria:

A form of PKU has been discovered in mice, and these model organisms are helping us to better understand the disease, and find treatments against it. (Source: Genes and Disease by the National Center for Biotechnology)