Abnormal PKU test?

Question

My sons PKU test came back abnormal. The nurse said it could be because he was underweright when he was born, but he was 7lbs, and perfectly healthy. Has anyone ever had an abnormal test, and then have it come back again OK? Should I be worried?

Answer 1

The test is actually called the Newborn Screening. Weight has nothing to do with how the test comes back. Also, please try not to worry with what I'll tell you because I know alot of parents do get worried.

If your son came back positive for PKU (which would be abnormal) they will repeat the test. If he comes back positive again it will mean that he has Phenylketonuria (PKU).

If your son does have PKU he will need to be put onto a special Low Protein diet to monitor how much of the amino acid Phenylalanine is in his blood. The reason for this diet is because the enzyme in the liver that is used to convert Phenylalanine (Phe) into Tyrosine is either missing or defiecent in PKU people. Because of this their bodies can't propperly deal with Phe so any extra Phe just gets discarded into the blood stream. Eventually that extra phe can build up and cause many problems like tremors/shakes, vomitting, headaches, poor concentration, lack of energy and much more problems. If the Phe level is very high (meaning there is alot of Phe in the blood stream) siezures can occur and eventually mental retardation in babies. BUT the diet can and will prevent all of this!

This diet WILL be for life and it excludes things high in protein like meat, diary, breads, nuts, beans etc. Instead the diet is made up of startches, fruits, veggies and specially modified foods like pastas, breads and baked goods that are made to imitate the real food.

Your son will also have to drink a special metabolic formula which will help him gain nutrients that he would usually get from meat. The most important thing in the formula is Tyrosine since PKU people cannot convert Phe into Tyrosine they have to get it from somewhere. Also regular blood tests will be done to make sure that there is not to much Phe in the blood stream and the patient is getting enough Tyrosine because that is essential to grow.

Aside from this diet your son would live a happy normal life! If he has PKU and he follows the diet he will grow up just fine and just like any other child! I really hope this helps alittle bit and please make sure you get this test done again and if he does have PKU then contact either a medical geneticist or a metabolic dietitian.

Answer 2

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RE:
Abnormal PKU test?
My sons PKU test came back abnormal. The nurse said it could be because he was underweright when he was born, but he was 7lbs, and perfectly healthy. Has anyone ever had an abnormal test, and then have it come back again OK? Should I be worried?

Answer 3

They will do a repeat test, make sure that the baby has had a sufficient amount of formula or breast milk before the test is taken (Not immediatly before, but that a good eating pattern has been established 24hrs before test is taken as inssuficient nutrition can result in abnormal results) Hopefully everything is ok and just remember that there are worse things that could have happened to your baby.

Answer 4

Abnormal tests turn up every now and then. Most of the time, it's because the specimen wasn't the greatest one. (sometimes they get contaminated thru no one's fault, sometimes it just doesn't test properly in general) When they do the repeat test, if THAT one comes back abnormal, that's when you take action. The PKU test covers a lot of things, and you didn't say which part of it came back abnormal, but as long as you don't ignore the results and take the proper actions - as defined by the results of the repeat testing, there's no reason to worry.

Answer 5

Pku Test

Answer 6

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Answer 7

Yes, my granddaughter's PKU was abnormal for Cystic Fibrosis, and further testing showed she has CF. PKU is for several different treatable conditions. Your pediatrician will recommend further testing.