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Phenylketonuria (PKU)

Phenylketonuria (PKU). By: Jonathan Cioletti Will Allen Lizzie Giovine. What is it?. Phenylketonuria (also known as PKU) A rare condition in which a baby is born without the ability to properly break down an amino acid

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Phenylketonuria (PKU)

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  1. Phenylketonuria (PKU) By: Jonathan Cioletti Will Allen Lizzie Giovine

  2. What is it? • Phenylketonuria (also known as PKU) • A rare condition in which a baby is born without the ability to properly break down an amino acid • This is because the child is born without the enzyme phenylalanine hydroxylase

  3. Symptoms • Delayed mental or social skills • Head size significantly below normal • Hyperactivity • Jerking movements of the arms or legs • Mental retardation

  4. Symptoms continued • Seizures • Skin rashes • Tremors • Unusual positioning of hands

  5. Treatments • A diet that is extremely low in phenylalanine when a child is growing • Can not eat • Eggs • Milk • Other common foods • Must be a “Diet for Life”

  6. Genetics • Caused by the mutated PAH gene • PAH also known as enzyme phenylalanine hydroxylase • Molecular location: • Chromosome 12 • Inherited when both copies of the gene from the parents have mutations

  7. Bibliography • http://www.ncbi.nlm.nih.gov • http://ghr.nlm.nih.gov/condition/phenylketonuria

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