PKU is a rare genetic disorder that affects 1 in 15,000 people. It is caused by a lack of the enzyme phenylalanine hydroxylase, which converts phenylalanine into tyrosine. Newborns are tested for PKU as a special diet low in phenylalanine is required to prevent irreversible mental retardation. PKU foods are available, but can be expensive. Pregnant women with PKU must adhere to a strict diet to prevent birth defects. With the correct diet, people with PKU can live a long and healthy life.
PKU or phenylketonuria is a condition that affects about 1 in 15,000 people. Those with this disorder lack the enzyme phenylalanine hydroxylase, which allows the body to convert ingested phenylalanine into the amino acid tyrosine. Tyrosine helps the body synthesize proteins, and where it’s not present, the results can be quite devastating.
Newborns are regularly checked for PKU because if they have the condition, which is recessively inherited, they must eat a special diet that is very low in phenylalanine. Phenylalanine is unfortunately found in most proteins, such as eggs, nuts, meat, and breast or dairy milk. Phenylalanine is also present in most infant formulas. If the child with the condition eats these foods, they will develop irreversible mental retardation, hence the mandatory testing.
The test is quite simple, if a little difficult for new mothers to look at. The newborn’s heel is pricked, then a small amount of blood is squeezed out and sent to a laboratory for analysis. Lab results usually arrive within a few days, as following dietary restrictions is vital for the infant and child or adult with this disorder.
You will notice that many products clearly state whether or not they contain phenylalanine. You can see such labels on sodas, as well as packaged nuts and cheese in most cases. In addition to avoiding protein-rich foods, you also need to avoid most starchy foods such as potatoes and pasta, so your diet is restricted. To provide the body with the necessary protein it needs, protein formulas have been developed specifically for people with PKU so they can grow and develop normally.
When women with this condition become pregnant, the presence of PKU in the fetal environment is linked to birth defects of various types. It is especially important for pregnant women with this disorder to seek the advice of a high-risk obstetrician. Most important is strict adherence to a PKU diet during pregnancy to prevent birth defects in the fetus.
Because the diet of the person with the disorder is restrictive, there are many companies now producing PKU foods that are very low or completely absent in phenylalanines. These items, such as egg substitutes, ice cream substitutes, and various soups or spaghetti sauces, as well as low-protein breads and pastas, can help the person with this condition have a relatively normal diet. However, the cost of such food can be high, particularly for fancier substitutions.
With the correct diet, the person with this condition can expect to live a long and healthy life. Your food choices may be limited, but generally PKU will not cause other symptoms or complications as you age.
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