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PHENYLKETONURIA

Katrice Shorter, Steven Williams, Rodrigo Hallais,April McClendon

THE JUICE

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PHENYLKETONURIA(PKU)

What is phenylketonuria (PKU)?

Who does it affect?

What are the origins of PKU? What are the treatments for PKU?

What are the precautions of PKU?

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WHAT IS PKU?

PKU (phenylketonuria),in its "classic" form, is

a rare, inherited

metabolic disease thatresults in mental

retardation and otherneurological problems

when treatment is notstarted within the first

few weeks of life. .

http://tm.wc.ask.com/r?t=an&s=p&uid=02F4C1666336EEAF3&sid=1FDF237877053ABF3&qid=828582787EAAFD43B8B3FF3A67C0E99C&io=14&sv=za5cb0dda&o=0&ask=Human+Brain&uip=80ba7672&en=is&eo=-100&pt=&ac=7&qs=6&pg=2&u=http://web.ask.com/redir?bpg=http%3a%2f%2fweb.ask.com%2fpictures%3fq%3dHuman%2bBrain%26o%3d0%26page%3d2&q=Human+Brain&u=http%3a%2f%2fhome.att.net%2f%7egelowitz%2ffrmain.html&s=p&bu=http%3a%2f%2fhome.att.net%2f%7egelowitz%2ffrmain.html&o=0&isimageSearch=true&iskey=&thumbsrc=http%3a%2f%2fimages.picsearch.com%2fis%3f544130621841&imagesrc=http%3a%2f%2fhome.att.net%2f%7egelowitz%2fbrain_2.jpg&thumbwidth=128&thumbheight=118

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PHENYLALANINE

PKU is characterizedby the inability of thebody to utilize the

essential amino acidphenylalanine.

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WHATS THE DIFFERENCE BETWEEN

ESSENTIAL AND NON-ESSENTIAL

AMINO ACIDS?

Amino acids are thebuilding blocks forbody proteins.

Essential amino acidscan only be obtainedfrom the food we eat

as our body does notnormally producethem.

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LEVELS OF BLOOD

PHENYLALANINE

A normal blood phenylalanine level isabout 1mg/dl.

In cases of PKU, levels may range from 6-80mg/dl, but are usually greater than30mg/dl.

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WHAT HAPPENS WHEN THERE IS

TOO MUCH BLOOD

PHENYLALANINE?

Chronically, high levels of phenylalanine andsome of its breakdown products can cause

significant brain problems. There areother disorders of hyperphenylalaninemia,but classic PKU is the most common cause

of high levels of phenylalanine in theblood.

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WHAT HAPPENS WHEN THERE IS

TOO LITTLE BLOOD

PHENYLALANINE?It is important to remember that somephenylalanine is needed to maintain

normal body function.

Insufficient phenylalanine intake may causemental and physical sluggishness, loss ofappetite, anemia, rashes, and diarrhea.

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WHO DOES PKU EFFECT?

PKU is inherited asan autosomalrecessive trait.

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WHO DOES PKU EFFECT cont

Two people whoconceive a child mustboth be the carriers ofthe defective gene inorder for their child tohave the disorder.

The carrier for PKU

does not have thesymptoms.

http://www.pku-allieddisorders.org/children.htm

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WOMEN WITH PKU

It is recommended thatwomen with PKU who areof child bearing age,closely adhere to the low-phenlyalanine levels

before conception andthroughout pregnancy.The risk of miscarriage,mental retardation,microcephaly, and

congenital heart diseasein the child is high if themothers bloodphenylalanine is poorlycontrolled.

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INCIDENCE OF PKU

PKU affects about one out of every 10,000to 20,000 Caucasian or oriental births.The incidence in African Americans is far

less.

The PKU disorder is as frequent in men asit is in women.

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WHAT ARE THE SYMPTOMS

OF PKU?(About 50% of untreated infants have the following early

symptoms)

VomittingIrritability

Eczema-like rashUnusual odor to urine

Nervous System Problems(increased muscletone, more active muscle tendon reflexes)

Microcephaly

Decreased body growth

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OTHER SYMPTOMS OF PKU

Prominent cheek and jaw bones widelyspaced teeth

Poor development of tooth enamel.

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WHAT HAPPENS IF PKU GOES

UNTREATED?

If PKU goes untreatedor undetected, severebrain problems occursuch as seizures andmental retardation.

This can occur as

early as the secondmonth of life, if notdetected and treated.

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HOW CAN PKU BE TREATED?

Every state now screens the bloodphenylalanine level of all newborns atabout 3 days of age.

This test is one of several newbornscreening tests performed before or soonafter discharge from the hospital.

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HOW CAN PKU BE TREATED cont

Usually a few drops of bloodare obtained by a small prickon the heel, placed on a cardand then sent formeasurement.

If the screening test isabnormal, other tests areneeded to confirm or excludePKU.

Newborn screening allowsearly identification and earlyimplementation of treatment.

WHAT TYPE OF DIET IS

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WHAT TYPE OF DIET IS

APPROPRIATE FOR SOMEONE

WITH PKU? The goal of PKU treatment is to maintain theblood levels of pheylalanine between 2 and10mg/dl.

Treatment for PKU consists of a diet low inphenylalanine, which is maintained infants withspecial formulas and in individuals by eliminating

meat and using low protein grain products.Measured amounts of cereals, starches, fruit,and vegetables, along with a milk substitute arerecommended instead.

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OTHER THINGS TO STAY AWAY

FROM

Individuals with PKUmust be alert for foodsweetened with

aspartame.

NutraSweet inparticular, should beavoided because it isa derivative ofphenylalanine.

http://www.nutrasweet.com/index.asp

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HELPFUL WEBSITES FOR LOW

PROTEIN FOODS

*http://www.cambrookefoods.com/

http://www.waisman.wisc.edu/foods/lowprotein.html

http://www.cambrookefoods.com/http://www.cambrookefoods.com/http://www.waisman.wisc.edu/foods/lowprotein.htmlhttp://www.waisman.wisc.edu/foods/lowprotein.htmlhttp://www.waisman.wisc.edu/foods/lowprotein.htmlhttp://www.nexternal.com/cbfi2000/?Target=products.asp&RowID=67http://www.waisman.wisc.edu/foods/lowprotein.htmlhttp://www.waisman.wisc.edu/foods/lowprotein.htmlhttp://www.waisman.wisc.edu/foods/lowprotein.htmlhttp://www.cambrookefoods.com/http://www.cambrookefoods.com/

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LIFESTYLE ADJUSTMENTS FOR

PKU PATIENTS

More frequent doctor visits

Required dietary restrictions that mayimpact day to day activities.

Permanent monitoring of bloodphenylalanine levels

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RESOURCES

http://www.medhelp.org/lib/pku.htm

http://pkunews.org/

http://www.pku-allieddisorders.org/ http://www.pkunetwork.org/

http://www.cambrookefoods.com/

http://www.medhelp.org/lib/pku.htmhttp://pkunews.org/http://www.pku-allieddisorders.org/http://www.pkunetwork.org/http://www.cambrookefoods.com/http://www.cambrookefoods.com/http://www.pkunetwork.org/http://www.pku-allieddisorders.org/http://www.pku-allieddisorders.org/http://www.pku-allieddisorders.org/http://pkunews.org/http://www.medhelp.org/lib/pku.htm

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PAPER MEDIA

UCLA Symposium on Molecular andCellular Biology, Liss, Alan R. copyright1987