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Transcript of Phenylketonuria (PKU)
What gene or chromosome is affected by this disorder ?
PKU is caused by a mutation in a gene on chromosome 12.When this gene is mutated ,the shape of the PAH enzyme changes and it is unable to brake down phenylalanine.
Can anyone be a candidate for this disorder ?
What is PKU?
PKU is a rare genetic condition in which the body cannot break down the essential amino acid phenylalanine.When this acid build's up in your body it can damage your nervous system and your brain.
What are other names for it ?
The most common name is PKU or
Neonatal Phenylketonuria .
What are the prenatal test for this disorder?
A pregnant woman can request a prenatal test of DNA to know whether or not her child will be born with PKU.
What causes this disorder ?
PKU is inherited in an autosomal recessive pattern.This means both parents must pass on a defective version of the gene PAH for this child to inherit this disorder.
How is it diagnosed ?
The test for this disease is obligatory for all newborns.The disease will be detected by a few drops of the newborns blood from the heel.
What are the symptoms ?
The symptoms the child will start developing are:
•intellectual disabilities or mental retardation
•tremors or jerky hand and leg movements
•a distinct odor in breath, skin, or urine that is often described as musty
•lighter skin, hair, and eye color than their family members
What population is affected?
Although many babies are detected with this disease this passed gene is more common on people who ancestors come from a specific region. These are people from Europe or Native American.It is much less common in people for Africa,or Hispanic,or Asian ancestry.
What kind of medical assistance will the affected child need?
The main component of your
treatment will be eating a special diet that limits your intake of foods containing phenylalanine (mainly proteins)Infants and babies with PKU cannot be fed breast milk and must consume a special formula, often known as Lofenalac.The FDA recently approved sapropterin (Kuvac) for the treatment of PKU. Sapropterin increases your tolerance to phenylalanine. If sapropterin is effective for you, you must take it for life and continue to follow a low-PKU diet in order to manage your PKU symptoms.
Will further assistance be needed as the child grows older?
YOU must continue the treatment for their entire life.
What is the long term outlook for the child?
The long-term outlook for someone with PKU is very good if a limited-phenylalanine diet is started early and maintained from
shortly after his or her birth throughout life. If treatment is delayed or the condition remains untreated, brain damage occurs. This can lead to mental retardation by the first year of a child’s life.
In addition , PKU is a lifelong condition that you will have to manage throughout your entire life.
Are there any treatments or cures?
PKU is a treatable disease. Treatment involves a diet that is extremely low in phenylalanine, particularly when the child is growing. The diet must be strictly followed. Those who continue the diet into adulthood have better physical and mental health. “Diet for life” has become the standard recommended by most experts. This is especially important before conception and throughout pregnancy.
THERE ARE NO CURES. :(
Could this disorder have been prevented?
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.
It is very important that women with PKU closely follow a strict low-phenylalanine diet both before becoming pregnant and throughout the pregnancy,
since build-up of this substance will damage the developing baby even if the child has not inherited the defective gene.
Can individuals have children in the future ?And will they be affected?
THEY MIGTH BUT THOSE CHILDREN WILL BE AFFECTED UNLESS IF IS TRIED TO PREVENT.
What is the current status of research on this disease?
Now days a team of University of Wisconsin-Madison researchers have publish the second of two key papers showing that a unique protein derived from whey - known as glycomacropeptide, or GMP - is safe for people with PKU to eat. GMP is the first known natural protein that is safe for this group, and these findings are poised to revolutionize the PKU diet. Already, Cambrooke Foods, a Massachusetts company that specializes in the manufacture of medical foods, is in the process of developing GMP-fortified snack foods for commercial sale. This is an accomplishment because now people with PKU can have better control of their disease.
Is there a cure coming soon?
No, there is no cure for phenylketonuria. It is a genetic disorder passed down from the parents to the child. The best treatment to manage the symptoms of the disorder is a diet that is low in protein and rich in vegetables, fruit, and low-protein breads and cereals.
THANKS FOR YOUR ATTENTION !!!!!!!!!!!!
BY : Catherine Gonzalez
this is were i got my informa