Phenylketonuria is caused by a mutation in the PAH gene. The mutation changes the way the instructions for a certain enzyme are made. Normally this enzyme is able to convert the amino acid phenylalanine into other compounds that the body needs. In Phenylketonuria, the process is muted so that not enough amino acids are converted. This eventually can lead up to an increase of amino acids so that they reach toxic levels and begin to cause brain damage.
Statistics About Phenylketonuria
1. There are regional variations in the birth statistics of Phenylketonuria: on average, about 1 in 15,000 births have PKU, but it can be as high as 1 in 5,000 births in some regions.
2. Treatment guidelines recommend beginning treatment as early as possible, starting dietary treatment within the first week of life.
3. PKU was first discovered in 1934 and was known as Folling’s Disease for about 3 decades.
4. There is a 1 in 4 chance of having a PKU baby when both parents are carriers.
5. Children with PKU should not be fed more than 20 mg of phenylalanine in any given day.
6. 60-75% of normal protein must be taken from foods that are eaten and replaced with medical foods.
7. A PKU diet bans all meat, fish, chicken, eggs, nuts, beans, milk, and other dairy products.
8. Babies usually develop signs of PKU within a few months after birth without treatment.
9. 74 infants every day are diagnosed with PKU.
10. The approximate incidence rate in the United States is 0.01%.
11. the first child treated with a PKU diet was in the 1950’s.
12. Children who are tested for PKU before they reach 1 day in age may need to be tested again because the indicators for Phenylketonuria may not have followed developed.
13. The mutation occurs in a gene on Chromosome 12.
14. Because PKU must be treated early, babies in every U.S. state are routinely tested for the disease.
Common Traits and Interesting Facts
Phenylketonuria is better known as PKU. In its classic form, the production of this enzyme are virtually absent. If left untreated, the amino acids will quickly build up and cause damage. That’s why testing for this condition is critically important. If the mutation is discovered, then a treatment plan needs to be put into place as soon as possible. Testing happens almost immediately after birth. Thanks to the rapid response of medical professionals, when a PKU birth is detected, treatment begins promptly and virtually none of the signs and symptoms of Phenylketonuria are seen any more.
You can find phenylalanine in every protein that is eaten. That’s because it’s a building block of proteins. Some artificial sweeteners are also using phenylalanine today. Just consuming foods or these artificial sweeteners will not increase the chances of having a newborn diagnosed with PKU. Phenylketonuria is an inherited condition and can cause a number of physical and intellectual disabilities – even in children who first appear to be fine. The parents of a newborn each carry a copy of the mutated gene, but normally won’t show any signs and symptoms of the disorder.
Before conceiving a child, it may be a good idea for all couples to have some form of preconception genetic counseling. Doctors with a specialty in medical genetics can help parents understand what the risks of PKU happen to be and help to trace a family tree to determine if there may be a higher risk of having a child with PKU. If there are high risks, then couples can find the family planning help they may need.
As the statistics show, Phenylketonuria is not a common disorder, but it isn’t necessarily very rare either. That’s why having all newborns tested immediately is such a critical component of the treatment process.
Treatment and Condition
PKU can be a scary diagnosis for a parent to receive. The good news is that with a strict diet and the possibility of certain medications helping, it isn’t a death sentence. It doesn’t even have to affect the child’s intelligence. As long as the phenylalanine levels are kept down consistently, the only thing different between a child with PKU and a child without it are the foods that are eaten.
Families that have children with PKU or adults that are coping with this disease need a lot of support. There is a limited diet and the foods that can be eaten are often quite expensive. They need to have regular blood tests done, keep track of their foods eaten with detailed records, and make frequent visits to the doctor. Kids with PKU are known to battle their parents for the chance to eat snacks and “normal” food like everyone else.
This is one it is important to focus on the good things in life instead of the disorder. Children with PKU can do anything that other kids can do. Without a change in attention, kids tend to focus on the foods they want to eat that they aren’t allowed to eat and this might lead to food sneaking – which can be an unintended, but deadly choice.
The biggest adjustment is that households who are dealing with PKU need to be prepared to bring food with them at all times. The PKU diet allows people to eat at a restaurant regularly, although sometimes fries or a salad are the only options, but certain gatherings require food to be brought along. Speaking with school staff, teachers, and other people who interact with your family, along with a positive attitude, can make life a little easier.
Thanks to modern science, Phenylketonuria is not a death sentence any more. It doesn’t even cause brain damage, seizures, or a reduction in the overall quality of life. Although a strict diet must followed, it is possible to live a long and fulfilling life while having this disorder. With proper support from everyone, PKU can be something that is just adapted to instead of dreaded.