How long for pku results

It can prevent problems with thinking, remembering, and problem solving. In the past, the benefits of continuing the diet beyond early childhood were not clear. We now know that if a child or adult has stopped the diet, it is never too late to go back on. Most who do retun to the diet think and feel better, with measurable improvement in attention span, concentration, and memory.

You do know that the wonder of having a newborn was interrupted with the terror of having to deal with a high fever and prolonged hospitalization. Then, when things had settled down, you heard about this PKU issue!

And now you have to do one of the hardest things for parents: wait. Waiting to see if your son is healthy. In the meantime, you might want to be in touch with whatever doctor would manage the situation if your son were to prove to have PKU-that doctor should be able to give you the best advice for right now.

Thank you Doctor! Your answers helped us a lot. They say they might have the results as early as tomorrow. You are right that is the hard part… waiting. He seems so healthy and happy and he is smiling now. He has none of those symptoms. The lab said the same [thing you did] that most of the time they retest the results come back fine. Its so amazing the way the internet brings us all together.

Thank you so much for your time. What a special service you provide. Even some Pharmacists do not know about PKU. I have taught them what I know.

The pharmacist that have graduated recently know what PKU is. Also, my doctors do not talk to each other. My mother definitely had PKU, but she was never tested for it.

She had a lot of the symptoms I had. And I was not tested as a baby, as I was born in When I watch my diet, I feel one percent better. I am able to lose weight.

I feel healthy. I have better concentration. My memory is much better and the best thing is I am not depressed. Once I go back to my old eating habits, I go into a downward slide. I also have to be careful of all my medications, even over the counter kind. Sometimes the they elevate and decrease. All 3 of my girls til this day are all mild cases that never exceeded past 6. No diet restrictions! A new heel test would not be a bad idea.. My baby is 1 month old and has had 4 blood tests to check her digestion of protein.

They said it was elevated to or 6 on the scale. We just had the 4th blood test yesterday waiting for the results. They said if it is still elevated they would send us to a specialist. Is or 6 very high? My grandson is 9 days old. The problems often appear in the first year of life, causing infants to appear abnormally sleepy and listless.

They may have trouble feeding and develop a red, itchy rash similar to eczema. In addition, such babies typically have lighter skin and hair than family members who don't have the condition. PKU is a genetic, or inherited, condition. People with PKU don't have the enzyme needed to process a substance called phenylalanine. This substance is an amino acid that is a part of proteins found in many foods. Without the enzyme to break it down, phenylalanine can build up to dangerous levels in the body.

People with PKU also lose a substance called phenylacetic acid in their urine and sweat. If PKU isn't treated, they have a distinctive musty odor. Starting in infancy and all through their life, people with PKU must follow a diet that puts strict limits on how much phenylalanine they can eat. The link between PKU and intellectual disability has been known since the s.

In fact, PKU was the first condition that was screened for in newborns. All U. This means that almost all cases are now found and treatment started at birth. Your child may need this test because finding and starting treatment of PKU in a newborn can prevent intellectual disability and other developmental problems in your child.

If your child has a controlled, low-protein diet that carefully limits phenylalanine in the first weeks of life and beyond, they are likely to live a healthy life. Even though most babies with PKU are diagnosed soon after birth, screening for PKU should be considered for any child who has an intellectual disability or is developmentally delayed. Your doctor is likely to ask you several questions. Be ready to answer them to reserve time to go over points you want to focus on. For example, your doctor may ask:.

Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission. This content does not have an English version. This content does not have an Arabic version. Diagnosis Newborn blood testing identifies almost all cases of phenylketonuria. More Information Genetic testing. Email address. First Name let us know your preferred name. Last Name. Thank you for subscribing Your in-depth digestive health guide will be in your inbox shortly.

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Share on: Facebook Twitter. Show references National Library of Medicine. Genetics Home Reference. Accessed Oct. National Organization for Rare Disorders. Learning about phenylketonuria PKU. National Human Genome Research Institute. Phenylketonuria PKU.

Merck Manual Professional Version. Bodamer OA. Overview of phenylketonuria. Singh RH, et al. Recommendations for nutritional management of phenylalanine hydroxylase deficiency. Genetics in Medicine.