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Phenylketonuria

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  • 1. What You Need To Know About Phenylketonuria By Taylor Amarel
  • 2. Introduction• Phenylketonuria (PKU) autosomal recessive disorder characterized by an inability of the body to utilize the essential amino acid, phenylalanine.• Located On The 12th chromosome
  • 3. Characteristics• Undistinguishable until years after birth• Due to its autosomal receive inheritance pattern it is rarely able to be diagnosed by genetic screening.• There is current no cure.
  • 4. Facts• Classic PKU and the other causes of hyperphenylalaninemia 5260 people a year. Caucasian or Oriental births. The incidence in African Americans is far less. These disorders are equally frequent in males and females.
  • 5. Screening Methods• Screening for PKU is mandated in all 50 states. Performed after 24 hours of life but before the infant is 7 days old.• There are three principal methods used for PKU screening the Guthrie Bacterial Inhibition Assay (BIA), automated fluorometric assay, and tandem mass spectrometry.• Unfortunately not everybody has the resources for these tests.
  • 6. Life Impact• Delayed mental and social skills• Seizures• Jerking movements of the arms or legs• Tremors• Serious rashes• Attention-deficit hyperactivity disorder• Severe mental retardation
  • 7. Treatment• Diet• Fruits Vegetables• Low Protein Diet• Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important that they stay on the diet for the rest of their lives.
  • 8. Work Cited• http://www.medhelp.org/lib/pku.htm• http://www.nlm.nih.gov/medlineplus/phenylk etonuria.html• http://www.pkunews.org/