an introduction to alkaptonuria (aku) · • choose olive or rapeseed in cooking oils. • choose...
TRANSCRIPT
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: [email protected]
Web:www.akusociety.org