7-5 Phenylketonuria Report By Kevin Zhu, Walter Chen, and Sachin Patro

Definition Phenylketonuria (PKU) is a genetic disorder that is described by an lack of ability of the body to use the necessary amino acid called phenylalanine. Amino acids are the building blocks for body’s proteins. 'Essential' amino acids can only be attained from the food that we eat. Our body does not normally produce them. The 'classic PKU', the enzyme that breaks down phenylalanine hydroxylase, is absolutely or almost completely lacking. This enzyme normally turns phenylalanine to another amino acid called tyrosine. Without this ‘Classic PKU', phenylalanine and it’s other breakdown chemicals from other enzyme method, build up in the blood and body tissues.

Causes! If the patient is untreated, the brain cells change and causes mental retardation. The average IQ is less than 50 It can be traced to Chromosome #12

Causes 2 PKU is inherited, means it is passed down by your families. Both parents must be carriers in order for child to have PKU. This is called autosomal recessive. If two parents are carriers, the babies they have will have PKU. PP

Structure of PKU PKU stands for Phenylketorunia The amino acid that us needed to break down is the phenylalanine The parents must be carriers in order for the child to have PKU. So they the ones to blame!

Symptoms Jerking hand and leg movements Mental retardation Seizures Skin rashes Head size significantly below normal Unusual positioning of hands Delayed mental and social skills Hyperactivity Tremors Musty odor may be detected on skin, urine, and breath

Incidence Classic PKU and the other causes of PKU affect about one of every 10,000 to 20,000 Caucasian or Oriental births. The incidence in African Americans is far less. These disorders are equally frequent in males and females.

Treatment Each state now screens the blood phenylalanine level of all babies at the age of 3 days. This test is one of few baby test performed before or soon after the birth from the hospital. A few drops of the blood are gained by a small puncture at the heel, then placed on a card, and then sent for quantity. If the test is abnormal, other tests are needed to prove or prohibit PKU. Newborn screening allows quick classification and early realization of treatment. The goal of the PKU test is to preserve the blood level of phenylalanine between 2 and 10 mg/dl. Some phenylalanine is required for normal height growth. High protein foods, such as: meat, poultry, eggs, cheese, dried beans, and peas are avoided.

You end up looking like…….. If not treated

Bibliography https://health.google.com/health/ref/Phenylketonuria www.medhelp.org/lib/pku.htm http://click4biology.info/c4b/4/gene4.3.htmhttp://www.bothbrainsandbeauty.com/academic-discussions/phenylketonuria-pku-995 http://www.boston.com/news/health/articles/2010/02/08/ethics_debate_over_blood_from_newborn_safety_tests/