Phenylketonuria(PKU)

Developmental Disability

It is a condition in which a problem with a specific enzyme, a protein that speeds up certain chemical reactions, causes mental retardation.Phenylketonuria (PKU) is a genetic disorder in which the body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If the Phe level gets too high, it can damage the brain and cause severe mental retardation

Symptoms:

About 50% of untreated infants have early symptoms, such as vomiting, irritability, an eczema-like rash, and a mousy odor to the urine. Some may also have subtle signs of nervous system function problems, such as increased muscle tone, and more active muscle tendon reflexes. Later, severe brain problems occur, such as mental retardation and seizures. Other commonly noted features in untreated children include: microcephaly (small head), prominent cheek and upper jaw bones with widely spaced teeth, poor development of tooth enamel, and decreased body growth.

Treatment:

An affected newborn can grow up with normal brain development, but only by managing and controlling phenylalanine (Phe) levels through diet, or a combination of diet and medication. 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 they can't get from their food.