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PKU - Phenylketonuria

Mama Mia Sofia [Thai] Damonster [a.k.a. Damani J.]. PKU - Phenylketonuria. What is it?. Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. What are the symptoms?.

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PKU - Phenylketonuria

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  1. Mama Mia Sofia [Thai] Damonster [a.k.a. Damani J.] PKU - Phenylketonuria

  2. What is it? • Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.

  3. What are the symptoms? • Lighter skin, hair, and eyes than brothers or sisters without the disease. • Delayed mental and social skills • Head size significantly below normal • Hyperactivity • Jerking movements of the arms or legs • Mental retardation • Seizures • Skin rashes • Tremors • Unusual positioning of hands • musty body odor (from too much phenylalanine)

  4. What is life like for people and their families with the disease? • Well this disorder takes a large toll on families, because the child will have brain damage if he/she is left untreated. • If the disorder is treated right away properly, it does not cause any permanent damage.

  5. How do you get the disease? • PKU is caused by an autosomal recessive trait that is inherited by parents who have the disease or are carriers • Babies born with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down phenylalanine, an essential amino acid that is found in foods that contain protein.

  6. Where is it on the chromosome? • PKU is caused by a mutation in a gene on chromosome 12

  7. How can you treat it? • Treatment for PKU involves a diet that is extremely low in phenylalanine, which is found in milk, eggs, and other common foods. •  Those who continue the diet into adulthood have better physical and mental health • A special infant formula called Lofenalac is made for infants with PKU. It is a protein source that is extremely low in phenylalanine while staying balanced for the remaining essential amino acids.

  8. How can you prevent it? • An enzyme assay can determine if parents carry the gene for PKU. • Chorionic villussampling can be done during pregnancy to screen the unborn baby for PKU. • Women with PKU must follow a strict low-phenylalanine diet both before becoming pregnant and throughout the pregnancy • Build-up of this substance will damage the developing baby even if the child has not inherited the defective gene.

  9. History of PKU and famous people who have had it. • PKU was first discovered by a man named AsbjornFolling in 1934 when he several mentally retarded patients were realeasing a ‘musty’ odor. • In 1966, hospitals across the country started using the Guthrie test to screen all infants for PKU • It was believed that Rosemary Kennedy had PKU, but it was never proven.

  10. Works Cited • http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002150/ • http://learn.genetics.utah.edu/content/disorders/whataregd/pku/ • http://www.pku.com/home.php • http://preemies.about.com/od/takingyourpreemiehome/tp/Newborn-Screening-In-The-Nicu.htm

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