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What is PKU?

What is PKU?

If you have PKU or your child with phenylketonuria is older, you may think this is a silly question, but even though you are living with and managing this metabolic condition on a daily basis, you may not completely understand what PKU is or be able to explain it to others.

There are some terms that you may or may not be familiar with. Learning these key terms will help you better understand or better explain why you follow a special low protein diet.

Art: In “medical terms’ Phenyketonuria (PKU) is an autosomal recessive genetic disorder that results in incomplete phenylalanine metabolism.

But in “REAL TERMS” what does this mean?

Let’s break it down:
Autosomal: a chromosome other than an X or Y sex chromosome
Recessive: a trait that appears only when a gene has been inherited from both parents
Genetic: hereditary characteristic that you get from your parents
Disorder: an abnormal condition
Phenylalanine: an essential amino acid (must be consumed, the body doesn’t make it) commonly referred to as “PHE”
Metabolism: the process in which your body breaks down particular substances

So in REAL TERMS:
PKU is an inherited genetic disorder that prevents the full breakdown of phenylalaine.

Did you know: (image) When phenylalanine builds up in the blood it is excreted in the urine as phenyketones. That is how this condition became known as PhenyKetonUria or PKU for short.


Posted by: Sandy Simons, MA, RD, CHES

Sandy is a Registered Dietitian and Certified Health Education Specialist. She received her graduate training at Columbia University’s Teacher College in New York. She has been working on the industry side of metabolic nutrition for the past 11 years and is often seen at patient events around the country. This post is also found in a book written by Sandy with the help of others titled: My PKU Toolkit: A Transition Guide to Adult PKU Management.

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