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Mama Mia Sofia [Thai] Damonster [a.k.a. Damani J.]

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Presentation on theme: "Mama Mia Sofia [Thai] Damonster [a.k.a. Damani J.]"— Presentation transcript:

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

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 villus sampling 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 Asbjorn Folling 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  PMH / PMH /  ers/whataregd/pku/ ers/whataregd/pku/   emiehome/tp/Newborn-Screening-In-The- Nicu.htm emiehome/tp/Newborn-Screening-In-The- Nicu.htm


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