What is a PKU done on the babay and what happens if it comes back bad?

A friend just had a babay and was told they needed to run some more blood tests because the PKU came back bad. What does this mean

PKU, or phenylketonuria, is a genetic disorder where the person lacks an enzyme to break down a certain amino acid called phenylalanine. In children with PKU, phenylalanine builds up in their bodies and can cause problems. It used to be that it wasn't diagnosed until symptoms showed up, at which point it was too late to prevent a lot of the damage from the amino acid build-up. Children with PKU would typically be signficantly mentally retarded, and have other developmental problems as well.

Now, however, all children are tested for PKU at birth, because a really cool scientist named Robert Guthrie decided not to patent the test, so it would be available to everyone at a reasonable cost. When a baby is diagnosed with PKU at birth, they are put on a special diet that is low in phenylalanine so that they will not have any symptoms later on. As long as they stick to their special diet, children with PKU can develop perfectly normally, and show no signs of mental retardation or other problems associated with untreated PKU.

So basically, what it means that the test came back postivie (i.e. "bad") is that there's a good chance that the baby has PKU and will only be allowed to eat certain foods (like how people with diabetes can't eat things with a lot of sugar), but since they caught it so early, he/she will be fine as long as his/her parents follow the doctor's instructions carefully.

newborn babies routinely have blood tests done for PKU (an enzyme) and thyroid. These conditions when picked up early prevent any problems. Sometimes the result is erroneous so any positive result must be repeated. However if the PKU is positive it means that a certain enzyme is low in the baby. The baby will have to avoid certain foods as a result. The Dr. will instruct the mom fully.

newborns are tested for pku, and if the results come back positive which is bad. that means more and likely the baby has pku. I was born with classic pku along with my sister too. the baby will have to be put on a special diet to control the phe levels from the food they eat. a special formula would be given in place of all high protein foods that cant be eaten. it stays with you for your entire life.
but its important to get on the diet cause it can be harmful if its not controlled, the pku.

PKU (Phenylketonuria) is a genetic disease in which the person who is affected cannot metabolize a certain amino acid (phenylalanine). If the affected person ingests this amino acid, toxic metabolites build up, causing brain damage, developmental arrest, and if left unchecked, death. All US hospitals currently screen for this disorder because restricitng phenylalanine to minimal amounts will prevent any complications from occuring.

i forgot, but PKU is used in diet sweeteners-like neutrasweet.

it usually means the test on the baby came back with high phenylalanine levels in the body, after the newborn test comes back with the high level, they retest the baby to make sure he/she has pku, so they can start the special diet. The high levels are only serious if the level of phenylalanine cant be brought down quickly or remain high for a long period of time. Tell your friend managing pku gets so much easier with time. good luck to your friend.