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Phenylketonuria (PKU)

Phenylketonuria (PKU). By Carter Rolfe. What is Phenylketonuria?. Phenylketonuria, or PKU for short, is a genetic disorder found in infants.

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Phenylketonuria (PKU)

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  1. Phenylketonuria (PKU) By Carter Rolfe

  2. What is Phenylketonuria? • Phenylketonuria, or PKU for short, is a genetic disorder found in infants. • PKU is when the body lacks a supply of an enzyme called phenylalanine hydroxylase which is required to transform phenylalanine into tyrosine after consumption of protein.

  3. Symptoms of PKU • An odor to the skin, hair, and urine. • Diarrhea and vomiting, preceding weight loss. • Irritability. • Dry skin or skin rashes. • Light sensitivity.

  4. Genetic Cause of PKU • PKU is an autosomal recessive disease. This means to have PKU one must inherit the gene from each parent. • Inheritance of the gene from one parent makes one unaffected, but a carrier of PKU.

  5. Treatment for PKU • The amino acid phenylketonuria is a complement of proteins and is necessary for normal growth and development. People with PKU cannot break down phenylalanine. Excess phenylalanine leads to brain and nervous system damage. • To treat PKU, patients will usually go on a diet that reduces the intake of proteins. However taking medication is another option such as the BH4-responsive. BH4-responsive has been the most affective in treatment.

  6. Test Individuals for PKU • A simple blood test can reveal if an infant has phenlketonuria. Since PKU is most common in babies the test is run on all newborns 24 hrs after birth in the United States. • However since it takes time for phenylalanine to build up, 24 hrs might be too short and give false results. So frequent blood test will need to be taken to give true results. • The blood sample is usually taken from the babies heel.

  7. Percentage of the Population with PKU • PKU affects about 1 in every 15,000 babies a year in the United States. However this varies between countries. Some higher (1 out of 5,000) and some lower (1 out of 100,000).

  8. Societal Issues • People who have Phenylketonuria (PKU) are not discriminated or hated in their communities

  9. Bibliography • www.children.webmd.com/tc/phenylketonuria-pku • www.pediatrics.aappublications.org/cgi/content/abstract/74/3/424 • www.springerlink.com/index/U5034010827K4663.pdf

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