Phenylketonuria (PKU) and The Need For Good Nutrition

PKU is a genetic, metabolic, which prevents the oxidation of the body phenylalanine hydroxylase. As this chemical continues to accumulate, mental retardation, sometimes severe, may cause, with very few of those untreated PKU having an IQ over 50. It is important to have a diet low in protein, the only way removing the blood phenylalanine in excess, and this diet should be started as soon as possible to minimize the risk of mental retardation.

PKU test is required for all infants in the United States and those in other countries. Because of this test and the ability to start treatment at an early age, there were many people with PKU who have grown up and now have their own children. However, women should be careful to continue to follow a diet low in protein so they do not risk putting their children for a number of serious diseases, including mental retardation, congenital heart disease, facial abnormalities and microcephaly (small head which is also associated with a delay) (Source: Sarason and Sarason 2005)

There are usually no symptoms in newborns with PKU, but they will grow in a few months if there is no treatment. Some of them may include mental retardation, behavioral or social problems, seizures, tremors or jerking movements, usually in the arms and legs, hyperactivity, growth retardation, skin rashes, small head (also called microcephaly) and a musty smell is observed breath, skin or urine of the child, which is the result of excess phenylalanine amino acids. Children often have fair skin and blue eyes, because phenylalanine can not transform into melanin, which is necessary for hair and darker skin color.

It is believed that the low-protein diet can be stopped when the child reaches adolescence, however, this is not always true in life. A woman who is pregnant may have to return to a low-protein diet to protect your baby. Most babies born to mothers with PKU will inherit the disease itself. Some doctors suggest that diet will be followed throughout their lives independently. A parent can be a carrier, but not the actual disease, which will cause the baby to be born with PKU. If only one person has the gene, then there is no risk for passing PKU on.

PKU is most common in people who are native European or North American ancestry and is less common in African Americans, Asians and Hispanics. (Source: Mayo Clinic)

When Alison and Jacob found out they were going to have a baby, they were delighted. Allison is nervous and decided to do a test for PKU using chorionic villus sampling to test for PKU and a number of other conditions. A small sample is taken and tested. If the baby has PKU, the doctor will suggest genetic counseling and education.

As it grows, it will also have to work to avoid some common foods, including milk, eggs and cheese, nuts, soy, beans, chicken, meat, fish, chocolate, peas and asparatame foods made with an artificial sweetener that is a number of products such as soft drinks and food of certain drugs. Other foods can also be limited, including pasta, rice, bread, cookies and some fruits and vegetables. Foods that are permitted should not be eaten very well.

Allison is shocked to learn that she will not be able to breastfeed your baby, because breast milk also contains the diet of the mother of phenylalanine. As the baby grows, he may be given another formula as a supplement to the diet.

It may also need to have some small alternative protein foods that resemble what others eat - but these foods can be very expensive and may be available only in limited areas.

The dietician will give Allison and Jacob several recipes to follow for baby meals, including ways to eat healthy foods that are also low in protein. The couple knows they will have to pay particular attention to the labels so that your baby stays as healthy as possible. It is important that Allison and Jacob get emotional support wherever they can, they join a PKU support group online so they can get advice and guidance from families who are in the same position. Once a week, they will leave your baby with Allison's mother who knows and understands the diet so they can go out and eat a meal "normal" without worrying about the constraints and limitations.

One of the couple's concerns is school time. When the baby is old enough to go to school, Allison is concerned about school meals: the school will be able to meet the needs of the baby? Both Allison and Jacob are also concerned about their own health. While the baby is going to need to follow a diet low in protein, should any of them, so then they will eat many of the same foods that baby, they will also both use a protein supplement called Profect , Protica, so they can maintain their own strength and health.

The team of Mayo Clinic phenylketonuria (PKU)

Irwin Sarason G. and Barbara R. Sarason. Abnormal Psychology: The problem behavior maladaptive Eleventh Edition Pearson / Prentice Hall Publishing Company. Upper Saddle River, New Jersey 2005

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