Phenylketonuria

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==Definition : Phenylketonuria is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.==

Symptoms
==**Phenylalanine is in the body's production of melanin, its the pigment responsible for skin and hair color. due to this syndrome, infants with** the condition often have lighter skin, hair, and eyes than people without the disease. == Other symptoms may include:
 * Delayed mental and social skills
 * Head size significantly below normal
 * Hyperactivity
 * Jerking movements of the arms or legs[[image:http://t1.gstatic.com/images?q=tbn:ANd9GcSet2InytR6MTBHKnE0JutOvdaqnFuHWQ5pQYD9Byai--kDxuQ9IQ width="203" height="125" align="right"]]
 * Mental retardation
 * Seizures
 * Skin rashes
 * Tremors
 * Unusual positioning of hands

If this syndrom is untreated or foods containing phenylalanine are not avoided, a bad odor may be smelled on the breath, skin, and in urine. The odor is due to a build up of phenylalanine substances in the body. Phenylketonuria can be easily found with a simple blood test. Most cases require a phenylketonuria screening test for all newborns. The test is generally done with a heelstick shortly after birth.( The heelstick is being used in the picture below)

Treatment
Phenylketonuria is a treatable disease. 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. []