an introduction to alkaptonuria (aku) · • choose olive or rapeseed in cooking oils. • choose...

An introduction to Alkaptonuria (AKU)

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What isAKU?

Alkaptonuria (sounds like al-kap-ton-u-re-ah)

or AKU for short

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AKU is a manageable condition which affects

the way the body breaks down protein

• ChildrenwithAKUhaveadefectintheprocesswhichbreaksdownpartofaproteincalledTyrosine(TYR).

• ThisleadstothebuildupofanacidcalledHomogentisicacid(HGA).

• AsyougrowolderHGAwillaffectyourbonesandjoints.

• Withmanagement,peoplewithAKUattenduniversity,buildsuccessfulcareersandenjoyahappyfamilylifethesameaseveryoneelse.

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Youmaynoticesome ofthesesymptoms:•darkurine•darkearwax•darksweat

They are not painful and nothing to worry about.

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When you get older you may notice more symptoms

Darkspotsonyoureyes.Paininyourlowerbackandjoints.

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Diagnosis of AKU

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AKU is diagnosed by a simple urine test

IftheurinetestshowshighlevelsofHGA, youwillbereferredtoanexpertdoctor.

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Why do I have AKU?

YoucannotgiveAKUtoyourfriends.

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What are genes?

Insideeverycellofourbodyaresetsofinstructionscalledgenes.Thesegenesprovideinstructionsonhowwelook

andwhatfeaturesweinheritfromourparents.Thesegenesprovideinformationonhowtobreakdownprotein,includingtyrosine.Thebodycontainsover25000genesallworking

together.Theycanonlybeseenunderamicroscope.

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It’snobody’sfaultandthereisnothingyou couldhavedonetopreventit.

YourmumanddadwillhaveoneAKUgeneand onenormalgene.Thisisknownasbeingacarrier.

HavingAKUmeansyouwillhaveinherited2AKUgenes, onefrommumandonefromdad.

AKU is an inherited condition

FATHERCarrier

MOTHERCarrier

Child with AKU

NormalGene

AKUGene

AKUGene

NormalGene

AKUGene

AKUGene

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PeoplewhoarecarriersforAKUdonothaveAKUthemselves andthefaultygenedoesnotcauseaproblemtothem.

Around 1 in 500 people are carriers of the AKU gene

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When2peoplewhoarecarriersoftheAKUgenehaveachildthereisa1in4chanceofthatchildhavingAKU.

Father Mother

Child with AKU

Carrier Child

without AKU

Carrier Child

without AKU

Child without

AKU and is not a carrier

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The sciencebit... Proteinexplained

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Proteinisanutrientneededbythebody.

Ithelpstobuild,repairandmaintainbodycellsandtissues, likeyourskin,muscles,organs,bloodandevenbones.

Why do we need protein?

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Whenproteiniseaten,itisbrokendowninthebody (duringdigestion)intosmallerpieces(likebuildingblocks).

Thesesmallerpiecesarecalledaminoacids.

TyrTyr

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Thereare20aminoacids(buildingblocks)thatmakeupprotein.SomeoftheseareESSENTIALandcannotbemade

inthebody-sotheymustcomefromthefoodweeat.

Tyrosine(Tyr)isoneofthese20aminoacids. ItisthisparticularaminoacidthatapersonwithAKUcannot

breakdowncorrectly.

Protein is made up of many building blocks

called amino acids

TyrTyr

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Thebodyusestheseaminoacidsforgrowing, buildingupmuscleandhelpingthebodystayhealthy.

What normally happens

The conversion of protein into amino acids

Protein Enzymes

Amino acids

(Building Blocks)

HGA

HGA HGA HGA

HGAHGA HGA

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Why can someone with AKU not break down

Tyr correctly?

HGA

HGA HGA HGA

HGAHGA HGA

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Tyrosine(Tyr)isconvertedintoHGA.

AnenzymecalledHGDbreaksdownHGA andremovesitfromthebody.

In a person without AKU, Tyrosine (Tyr) is broken down and removed from the body

HGA Enzymes

HGD

No HGA

HGA

HGA HGA HGA

HGA HGA HGA

HGA HGA HGA

HGA HGA

HGA

HGA

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In a person with AKU, the HGA can not be broken

down as it should be. The HGD enzyme is missing, this means people have too

much HGA. HGA causes the symptoms of AKU.

HGA Faulty/No Enzyme Too much HGA

TheHGDenzymeismadeinthewrongshapeandsocannotdoitsjobofbreakingdownHGA.

SinceHGAcomesfromprotein,itmaybehelpfultounderstandaboutproteininyourdiet.Atthistimethereisnoneedtochangewhatyoueat.Ahealthybalanceddietismore

important.

HGA

HGA HGA HGA

HGA HGA HGA

HGA HGA HGA

HGA HGA

HGA

HGA

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Management... a healthy diet

in AKU

Wholegrain

Cereal

Bran Flakes

CousCous

Wholewheat

Pasta

Potatoes

Lentils

OilVegTuna

SemiSkimmed

Milk

BeansLow salt

and sugar

Plain Low Fat Yoghurt

SoyaMilk

Low Fat

Soft Cheese

Low FatSpread

Frozen

PeasChoppedTomatoes

PlainNuts

ChickPeas

WholemealBread

Porridge

Wholegrain

RiceRaisins

Crisps

Lean Mince

Oil & spreads

Dairy and alternatives

Fruit and vegetables

Eat less often andin small amounts

Beans, pulses, fish, eggs, meat

and other proteins

Potatoes, bread, rice, pasta and other starchy

carbohydrates

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A healthy diet for children

Chooseavarietyofdifferentfoodsfromeachfoodgroup,tohelpthebodygeteverythingitneedstostayhealthyand

keepyoufit.

Wholegrain

Cereal

Bran Flakes

CousCous

Wholewheat

Pasta

Potatoes

Lentils

OilVegTuna

SemiSkimmed

Milk

BeansLow salt

and sugar

Plain Low Fat Yoghurt

SoyaMilk

Low Fat

Soft Cheese

Low FatSpread

Frozen

PeasChoppedTomatoes

PlainNuts

ChickPeas

WholemealBread

Porridge

Wholegrain

RiceRaisins

Crisps

Lean Mince

Oil & spreads

Dairy and alternatives

Fruit and vegetables

Eat less often andin small amounts

Beans, pulses, fish, eggs, meat

and other proteins

Potatoes, bread, rice, pasta and other starchy

carbohydrates

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• Eatplentyofstarchyfoodssuchapotatoes,rice,pastaorbread,choosingwholegrainwherepossible.Thesefoodsgiveyouenergy.

• Eatatleast5portionsofavarietyoffruitandvegetableseveryday.Aportionisthesizeofyourhand.

• Have3dairyfoodseverydayforyourbonesandteeth.

• Eatsomebeans,pulses,fish,eggs,meatandotherproteinsateachmeal.

• Chooseoliveorrapeseedincookingoils.

• Choosewater,lowerfatmilk,sugar-freedrinks.Limitfruitjuiceand/orsmoothiestoatotalof150mladaywhichcountsas1ofyour5aday. 6-8

aday

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Physicalactivityandexercise

Itisimportanttokeepyourjointsmovingwithoutputtingtoomuchstrainonthem.Swimmingisagoodwaytodothis.

Trytoavoidwhatiscalled‘highimpact’exercisesucharugbyorkarate.Thesecanputstressonyourbackandjoints.

Beingphysicallyactivewillhelpyou.

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Monitoring

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Uptotheageof16youwillbelookedafterbyyourGP andadoctoratalocalhospital.Youmayhavebloodtests,

x-raysandspecialscans.

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At16,yourdoctorcanreferyoutotheNationalAlkaptonuriaCentreinLiverpool.

YouwillhaveanannualvisittothecentreandmeetateamofAKUexpertswhowilllookafteryou.Youwillbeatthecentre

forupto4daysandyourmum&dadcangowithyou.

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Where else can you

find help

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AKUSociety-acharitythathelpsandsupportspeoplewithAKU.

TheyorganiseeventswhereyoucanmeetotherswithAKUand makenewfriends.

Whenyouare16,theywillhelpyouattendtheNationalAKUCentre.

AmemberoftheAKUSocietyteamwillsupportyouatthecentreandcanvisityouathometohelpprepareyouforyourvisit.

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AKUSocietywww.akusociety.org

ClimbChildrenLivingwithInheritedMetabolicDiseases

www.climb.org.uk

GeneticAllianceUKwww.geneticalliance.org.uk

SecretaryofClinicalDirector: 0151 706 4197

ManagerialLead: 0151 706 4289

Mobile: 07785447421

Further information

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A Nestlé Health Science Company®Reg. Trademark of Société des Produits Nestlé S.A.

VitafloInternationalLtdforallowingustousetheirgraphics.

TheproductionofthisbooklethasbeensponsoredbySwedishOrphanBiovitrumLtd.

With thanks to...

How to get in touch

AKU Society C/O Advicehub

66 Devonshire Road Cambridge

CB1 2BL

Telephone:01223 322897

E-mail: info@akusociety.org

Web:www.akusociety.org