Biology PKU 11-19-10

PKU is Phenylketonuria.

Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. Baby's with Phenylketonuria are missing an enzyme called phenylalanine hydroxylase. This enzyme is needed to break down an essential amino acid called phenylalanine. Without the enzyme, levels of phenylalanine and two closely-related substances build up in the body. These substances are harmful to the central nervous system and cause brain damage.
 Symptoms:
Phenylketonuria is a part that helps to produce melanin in your body. The baby will have lighter skin tone, hair color and eye color than brothers or sisters without the disease. Other symptoms of phenylketonuria are delay in mental and social skills, head size significantly below normal, hyperactivity, jerking movements of the arms and legs, mental retardation, seizures, skin rashes, tremors, and unusual positioning of hands.
Its the lack of the substances but the build up of phenylketonuria.

The occurrence of PKU varies among ethnic groups and geographic regions worldwide. In the United States, PKU occurs in 1 in 10,000 to 15,000 newborns. Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly. Treatment involves a diet that is extremely low in phenylalanine, particularly when the child is growing. The diet must be strictly followed. This requires close supervision by a registered dietitian or doctor, and cooperation of the parent and child. Those who continue the diet into adulthood have better physical and mental health. “Diet for life” has become the standard recommended by most experts. This is especially important before conception and throughout pregnancy.