Phenylketonuria PKU By Victor Romanchenko What is it
Phenylketonuria (PKU) By: Victor Romanchenko
What is it /were is it located ? ? • An inherited inability to metabolize phenylalanine that causes brain and nerve damage if untreated. • Chromosome 12 • PAH Gene
Mutation • PKU is caused by a mutation in a gene on chromosome 12. • Shape of the PAH enzyme changes and it is unable to properly break down phenylalanine.
Dominant vs. Recessive • This disease is recessive trait. Phenylketonuria is caused by homozygous for a recessive allele.
People Affected • Native American and Northern Europe backgrounds. • 1 in every 15, 000 babies every year
Symptoms Mental retardation Behavioral or social problems Seizures, tremors or jerking movements in the arms and legs Hyperactivity Stunted growth Skin rashes (eczema) Small head size (microcephaly) A musty odor in the child's breath, skin or urine, caused by too much phenylalanine in the body • Fair skin and blue eyes, because phenylalanine cannot transform into melanin — the pigment responsible for hair and skin tone • •
How its Diagnosed • Collects a few drops of blood from your baby's heel or the bend in your baby's arm using a needle or lancet and test to see if the baby is diagnosed.
Treatment • A strict diet like not having too much protein. Foods to avoid: • Milk • Eggs • Cheese • Nuts • Soybeans • Beans • Chicken • Steak and other beef products • Pork • Fish • Chocolate candy • Peas • Beer
Life expectancy • Normal life with the proper diet. • Life, growth, nutrition, bone pathology are slightly suboptimal.
Testing • Draw blood from the heel of the baby after it was born 24 hours after. • Place blood on filter sheet, and cut out a piece of the paper then place on a plate of bacteria. • The more bacteria around the blood spot the more phenylanine.
Photo
Citations • Mayo Clinic Staff. (2011, November 17). Mayo clinic. Retrieved from http: //www. mayoclinic. com/health/phenylketon uria/DS 00514/DSECTION=symptoms • American Dietetic Association. (2011, June 01). Health guide. Retrieved from http: //health. nytimes. com/health/guides/diseas e/phenylketonuria/overview. html • wikipedia. (10 F). Retrieved from http: //en. wikipedia. org/wiki/Chromosome_12_( human)
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