Phenylketonuria (PKU) is a genetic disorder in which the body cannot metabolize, or process, the essential amino acid phenylalanine (Phe) normally because the enzyme phenylalanine hydroxylase (see below) 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 hospitals in the U.S. and many other countries are now routinely screened for PKU using a heel-prick blood sample. Antenatal screening is also available. This makes it easier to diagnose and treat the problem early.
Children with PKU excrete phenylalanine in their urine. They typically have very fair hair and their urine has a musty smell.
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 children 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.
Genetic and biochemical basis of PKU
Related category• HEALTH AND DISEASE
Source: National Institute of Child Health and Human Development
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