Phenylketonuria

Forwared from „PKU“

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  • Phenylketonuria (short: PKU) is an inborn error of metabolism
    Phenylketonuria is an inborn error of metabolism. It was first discovered in 1934 by Dr. Følling and was formerly called the Følling's disease. Since then there have been many discoveries. Nowadays it's called Phenylketonuria. In many countries there is a newborn screening. This means that every child gets a blood test in order to discover PKU (short form of Phenylketonuria), as well as many other inborn errors.

    As soon as it's discovered in a child there is a strict, low protein, diet introduced. This, as well as a amino acid substitute, are the treatment options. There is currently no known cure for PKU although there is a very well known diet available.

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