What Is PKU?

This Really Happened At Laurel's 18 Month Checkup Today

I decided to dedicate this post about what PKU is to our pediatrician in hopes that he will some day stumble upon our blog and be able to have an actual conversation that pertains specifically to our daughter when we visit him.

I had no idea what Phenylketonuria (PKU) was either when we were told Laurel might have it (but then again I am not a doctor), neither did either of our families. Katie did because of a genetics class she had taken in school.  Not too many people know what it is but almost everyone has seen the word Phenylalanine, the warning “Phenylketonurics – contains phenylalanine” is on gum (that is sugar free), diet soda, and packets of artificial sweetener.

Phenylketonurics – contains phenylalanine

It scares people; I have actually spoke with someone who thought it was something they could get from drinking diet soda. The truth is, the only reason that warning is on there is to inform people like Laurel (a phenylketonuric) that the product contains Aspartame. Aspartame breaks down into a ridiculously high amount of phenylalanine and must be avoided by people with PKU.

PKU is an inherited metabolic disorder which makes the body unable utilize the essential amino acid, phenylalanine (phe). A deficiency in phenylalanine hydroxylase or PAH, which is produced by the liver, causes PKU.

PAH should convert Phe to tyrosine, in PKU patients it only does just slightly or not at all which causes Phe to accumulates in the blood and body tissues. Phe is toxic to the central nervous system in excess and causes the problems normally associated with PKU. If left untreated, people with PKU who consume too much Phe are at risk for IQ loss, memory loss, concentration problems, mood disorders, and in some cases, severe mental retardation especially if diet is not followed early in life.

Laurel, I am happy to say, has not experienced any of the side effects of PKU since we have followed the diet strictly.  

Another problem that children with PKU experience is that they can potentially not get enough protein due to all the diet restrictions.  Laurels Phe levels have come back between 2 - 6 (the perfect range), except for once when it was slightly below 2.  

This morning, at her doctors appointment, she was in the 98% for height, 92% for head size, and 70% for weight plus she is one smart cookie.

So in closing, despite our pediatrician refusing to learn the first thing about Laurel's PKU she is doing absolutely awesome!