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phenylketonuria
Phenylketonuria (PKU) is a genetic disorder in which the body can't process the amino acid phenylalanine (Phe) normally because the enzyme phenylalanine hydroxylase is absent or inactive. Phe is found in almost all foods. If the Phe level gets too high, it can damage the brain and cause severe mental retardation. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early.
Infants with PKU excrete phenylalanine in their urine.
The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas, and cereals. Nutritional formulas provide the vitamins and minerals that cildren with PKU can't get from their food.
Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important that they stay on the diet for the rest of their lives.
Related category
• HEALTH AND DISEASE
Source: National Institute of Child Health and Human Development
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