PHENYLKETONURIA (PKU) BY: BORA LUCAJ

PKU is a rare genetic disorder in which a baby is born without the ability to break down an amino acid called phenylalanine. If not treated soon after birth, phenylalanine builds up in the blood and brain. This buildup can lead to intellectual disability and central nervous system problems. WHAT IS IT ?!

CAUSES OF PKU PKU is inherited, which means it is passed down through families. Both parents must pass on the defective gene in order for a baby to have the condition. Babies with this condition lack an essential amino acid called phenylalanine hydroxylase. Without this enzyme, levels of phenylalanine build up in the body which is harmful to the central nervous system and cause brain damage.

symptoms Lighter skin, hair, and eyes Delayed mental and social skills Head size is below normal Jerking movements of the arms and legs Mental retardation Seizures Skin rashes Unusual positioning of hands Musty odor from the breath, skin, and in urine symptoms

TREATMENT PKU is a treatable disease. Treatment involves a diet that is extremely low in phenylalanine, when the child is growing. Getting regular blood tests to check the levels of phenylalanine. Avoid products that contain aspartame, milk, or eggs. Take supplements such as fish oil to replace fatty acids.

OBSTACLES People suffering PKU have many daily and lifelong obstacles such as: It is harder for them to socialize with people They do not comprehend well Have an unpleasing smell that people may not want to be around you. Having to watch out for the foods and make sure there is no protein being put into the body.

There is no possible cure, but the disease can be effectively managed.

OCCURRENCE IN PKU PKU affects about 1 in 10,000 babies born in the United States

WHO IT AFFECTS PKU affects new born babies in the U.S. Several hundreds of babies born are put on a special restricted diet every year Both male and female are likely to be infected Varies among ethnic groups and race

BIBLIOGRAPHY https://health.google.com/health/ref/Phenylketonuria http://www.medhelp.org/lib/pku.htm http://www.medicinenet.com/phenylketonuria/article.htm http://ghr.nlm.nih.gov/condition=phenylketonuria http://children.webmd.com/tc/phenylketonuria-pku-symptoms http://www.healthscout.com/ency/68/560/main.html