PKU, also known as phenylketonuria, is a genetic disorder that affects the way that your body metabolizes phenylalanine, an amino acid. This disease can cause many different health problems and has no cure, although you can minimize some of the effects by following a special diet that is low in phenylalanine.
Phenylalanine
PKU is the result of a genetic mutation that affects how your body responds to phenylalanine. Phenylalanine is an amino acid, which means that it is present in proteins. Phenylalanine is known as an essential amino acid because it does not occur naturally in your body and you must obtain it from your diet. In addition to its importance in making proteins, phenylalanine converts into tyrosine, another amino acid.
Phenylketonuria
Phenylketonuria is an inherited condition. When you consume excess phenylalanine, your body break it down into other molecules, which are excreted or used for energy. If you have PKU, you have a genetic mutation in the enzyme that breaks down phenylalanine. This causes phenylalanine to accumulate.
Symptoms
One of the most apparent symptoms of PKU is a "musty" or "mousy" odor on the breath, urine and skin of an affected patients PKU can also cause slowed growth and development, an unusually small head, skin rashes, seizures, hyperactivity, mental retardation, unusual hand positioning and tremors. Phenylalanine is also needed to make melanin, one of the major pigments in the skin and hair. Because people with PKU often have to limit the amount of phenylalanine in their diets, they may be unusually pale and have light hair.
Treatment
There is no way to prevent PKU and there is no definitive cure. However, you can effectively treat this disease by following a diet that is very low in phenylalanine to prevent the amino acid from building up in your body. Phenylalanine is mostly found in protein-rich foods including meats, milk, eggs, nuts and soybeans. Babies with PKU need to consume a phenylalanine-free infant formula. Discuss an appropriate diet with your physician. Many hospitals screen newborns for a variety of genetic diseases, including PKU. Early detection and treatment helps minimize long-term consequences of this disease.
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