pku pregnancy

8/9/2019 PKU Pregnancy

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Denielle Saitta

Nutrition 416

Pregnancy &PKU


2/9

Saitta 1

Denielle Saitta

Nutrition 416

April 14, 2014

Pregnancy & PKU

Abstract:

Phenylketonuria (PKU i! an inherite" auto!o#al$rece!!i%e "i!or"er o a#ino aci"

#eta'oli!# in hich the 'o"y)! nor#al proce!!ing o the e!!ential a#ino aci", phenylalanine i!

"i!rupte" (1* +ong$ter# #anage#ent o PKU in%ol%e! "ietary therapy ith the re!triction o

"ietary phenylalanine (P-, hich re.uire! a "ecrea!e in the intake o natural protein an"

replacing it ith a protein !ource 'arren o P-* / the "iet o a patient ith PKU i! not

re!tricte", then the 'loo" phenylalanine le%el! are ele%ate", hich can lea" to irre%er!i'le 'rain

"a#age an" !e%ere #ental retar"ation* PKU a! the ir!t in'orn error o #eta'oli!# e%er

i"entiie" through population$'a!e" !creening hich create" a ne era in the "iagno!i! an"

#anage#ent o genetic "i!or"er!* Pregnancy pre!ent! a particular challenge or o#en ith

PKU, 'ecau!e high le%el! o P- are toic to the e#erging etu!)! 'rain a! ell a! other

teratogenic eect!* ho!e ith PKU !houl" retain a P-$re!tricte" "iet "uring conception an"

e%ery tri#e!ter*

Introduction:

Phenylketonuria (PKU i! an in'orn error o #eta'oli!# cau!e" 'y an alteration o the

phenylalanine hy"royla!e (PA gene, hich "ecrea!e! the rate o tran!lation o phenylalanine

to tyro!ine(2* PKU i! characterie" 'y ele%ate" 'loo" phenylalanine le%el!, hich are toic or

the 'rain* Although phenylketonuria i! rare, i"entiying phenylketonuria right aay can help

pre%ent !eriou! health pro'le#!* Untreate" PKU can lea" to #ental retar"ation or "elaye"

cogniti%e "e%elop#ent, groth a'nor#alitie!, an" 'eha%ioral "iicultie!, a#ong other a"%er!e

clinical "i!or"er!* reat#ent o patient! ith PKU inclu"e! olloing a !trict "iet that eli#inate!


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oo"! high in protein inclu"ing all #eat, #ilk, egg!, chee!e an" nut!* Protein i! pro%i"e" ith a

!pecial or#ula that "oe! not contain P- an" ro# #ea!ure" a#ount! o ruit!, %egeta'le!,

'rea"! an" cereal! (3* A PKU "iet !houl" 'e #aintaine" an" olloe" or lie* or o#en ith

PKU, it i! e!!ential or the health o their chil"ren to #aintain lo P- le%el! 'eore an" "uring

pregnancy* / the #other ail! to #aintain proper P- le%el! then the chil" #ay "e%elop

congenital heart "i!ea!e, groth retar"ation, #icrocephaly an" intellectual "i!a'ility a! a re!ult*

oe%er, PKU aecte" o#en the#!el%e! are not at ri!k o a""itional co#plication! "uring

pregnancy* he purpo!e o thi! re%ie i! to analye the gui"eline! an" li#itation! o a o#an

ith PKU "uring pregnancy*

Phenylketonuria (PKU):

PKU a! the ir!t in'orn error o #eta'oli!# i"entiie" through population !creening,

initiating a ne era in the "iagno!i! an" treat#ent o genetic "i!or"er!* he Noregian phy!ician

A!'5orn olling ir!t "e!cri'e" PKU in 134, hoe%er it a! not until the #i"$170! that a

patient ith PKU "eiciency a! treate" ith a lo P- "iet (4* he #o!t !e%ere or# o thi!

"i!or"er i! knon a! cla!!ic PKU* +e!! !e%ere or#! o the con"ition PKU are !o#eti#e! calle"

%ariant PKU an" non$PKU hyperphenylalanine#ia* People ith %ery #il" ca!e! #ay not re.uire

treat#ent ith a lo$phenylalanine "iet*

/n the Unite" State!, PKU occur! in 1 in 10,000 ne'orn!* 8o!t ca!e! o PKU are

"etecte" !hortly ater 'irth 'y ne'orn !creening (N9S, an" treat#ent i! !tarte" i##e"iately*

Ne'orn !creening i! the practice o te!ting e%ery ne'orn or certain har#ul or potentially

atal "i!or"er! that are not otheri!e apparent at 'irth (4* Ne'orn !creening te!t! are #o!t

co##only "one ro# hole 'loo" !a#ple! collecte" on !pecially "e!igne" ilter paper* Sa#ple!

are collecte" ro# inant! 'eteen 24 hour! an" : "ay! ater 'irth, ith the re.uire#ent that the


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'a'y ha! 'een e" at lea!t once* Screening i! #an"atory, 'ut parent! "o ha%e an option to opt out

i they i!h* N9S or PKU 'eca#e i"e!prea" in North A#erica 'y the #i"$ to late$160!*

Since the initiation o N9S, al#o!t all ca!e! o PKU are "iagno!e" olloing a po!iti%e ne'orn

!creening te!t*

reat#ent an" #aintenance o PKU !houl" 'e !tarte" earlier in lie* / PKU i! "iagno!e"

early enough, an aecte" ne'orn can gro up ith nor#al 'rain "e%elop#ent, 'ut only 'y

#anaging an" controlling P- le%el! through "iet, or a co#'ination o "iet an" #e"ication*

Patient! ith late$treate" PKU an" !e%ere cogniti%e i#pair#ent al!o repre!ent a !pecial

challenge* /t i! unlikely that a patient "iagno!e" ith PKU ill i#pro%e in cogniti%e a'ilitie!

e%en i "ietary treat#ent !ucce!!ully re"uce! 'loo" P- (4* oe%er, there i! e%i"ence that

ith "ietary #o"iication! patient! #ay eperience i#pro%e#ent! in 'eha%ior, p!ychiatric

!y#pto#atology, an" !eiure control (4*

-%eryone ha! a pair o gene! that #ake the PA eny#e* /n chil"ren ith PKU, neither

o the!e gene! ork! correctly* he!e chil"ren inherit one non$orking gene or the con"ition

ro# each parent* hough parent! o chil"ren ith PKU rarely ha%e the con"ition the#!el%e!,

each parent ha! a !ingle non$orking gene* ;hen 'oth parent! are carrier!, there i! a 27arthy Scale! o >hil"ren)! A'ilitie!, an" the ;ech!ler

/ntelligence Scale or >hil"ren*

Neuro"e%elop#ent an" the occurrence o >D, #eta'olic PKU control i! critical early in

pregnancy, an" it #u!t 'e #aintaine" throughout pregnancy to en!ure !ati!actory cogniti%e

"e%elop#ent (7* A >D #ean! a chil" i! 'orn ith an a'nor#ally !tructure" heart an"=or large

%e!!el!* 9eginning the P- re!tricte" "iet 'eore conception an" achie%ing #eta'olic control no

later than the @theek o ge!tation can !igniicantly re"uce the inci"ence o >D (7* A !tu"y

that looke" at 271 pregnant o#en "iagno!e" ith PKU, 22 o!pring ha" #a5or car"iac

#alor#ation! hile none o the o#en ho ha" 'loo" P- le%el! le!! than 600 #icro#ole=+

'y @ eek!) ge!tation ha" o!pring ith >D (@*

Another po!!i'le !i"e eect that chil"ren coul" inherit "ue to #other! not olloing a

lo P- "iet i! #icrocephaly* 8icrocephaly i! a neuro"e%elop#ent "i!or"er in hich a chil")!

hea" i! !igniicantly !#aller than the hea" o other chil"ren o the !a#e age an" !e* Detecte" at

'irth, #icrocephaly u!ually i! cau!e" ro# the 'rain "e%eloping uncharacteri!tically in o#' or

not groing a! it !houl" ater 'irth* /t ha! 'een note" that le!!ening o the #aternal 'loo"

phenylalanine le%el to 600 #icro#ole=+ or le!!, re"uce! the inci"ence o #icrocephaly ro#

:3< to @< (@* hough there i! !till "i!agree#ent o%er !ae P- le%el!, it i! !trongly !ugge!te"

that tho!e ith PKU !tay, an" or tho!e ho are pregnant !houl" !tay 'eteen, 360$:60

#icro#ole=+ to pro"uce the !ae!t health con"ition!*


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"onclusion:

/t can 'e conclu"e" that the potential or nor#al cogniti%e "e%elop#ent i! ei!tent an"

ill 'e !hon i "ietary action i! ell controlle" 'y the #other they ill ha%e chil"ren ith /?

!core! not inluence" 'y their "i!or"er (* / #other! choo!e to not ollo their lo P- "iet

then there are !eriou! health con!e.uence! that ill eect 'oth the #other an" chil"* /t !houl" 'e

!tre!!e" a'out 3 #onth! 'eore conception to the patient "iagno!e" ith PKU the un"a#ental

role playe" 'y "ietary re!triction* All o#en ith PKU !houl" 'e !trongly encourage" to recei%e

a#ily planning an" preconception coun!eling*

#eferences


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1* ;i"a#an K* Phenylketonuria in >hil"ren an" 8other!B Cene!, -n%iron#ent!,

9eha%ior* >urr Dir P!ychol Sci* e' 2001@(1B4@$72*

2* eillet , %an Spron!en , 8acDonal" A, et al* >hallenge! an" pitall! in the#anage#ent o phenylketonuria* Pe"iatric!* Aug 2010126(2B333$341*

3* he Uni%er!ity o enne!!ee Cenetic >enter Protocol or Phenylketonuria* Uni%er!ity

o enne!!ee Cenetic >enter* 2010*4* Eockley , An"er!!on >, Ant!hel K8, et al* Phenylalanine hy"royla!e "eiciencyB

"iagno!i! an" #anage#ent gui"eline* Cenet 8e"* e' 201416(2B1@@$200*

7* 8aillot , +il'urn 8, 9au"in , 8orley D;, +ee P* actor! inluencing outco#e! inthe o!pring o #other! ith phenylketonuria "uring pregnancyB the i#portance o

%ariation in #aternal 'loo" phenylalanine* he A#erican 5ournal o clinical nutrition*

Sep 200@@@(3B:00$:07*

6* Scel!a 9, Piatti , Par#igiani S, et al* Futco#e at 4 year! o age in chil"ren treate"ith hypother#ia ater neonatal hypoic$i!che#ic encephalopathy* Procee"ing! o

the 10th /nternational >hil" Neurology >ongre!!* 2006B231$233*

:* ;ai!'ren S-, Aen >* >ogniti%e an" 'eha%ioral "e%elop#ent in #aternal

phenylketonuria o!pring* Pe"iatric!* Dec 2003112(6 Pt 2B1744$174:*@* 8atalon K8, Aco!ta P9, Aen >* Gole o nutrition in pregnancy ith

phenylketonuria an" 'irth "eect!* Pe"iatric!* Dec 2003112(6 Pt 2B1734$1736** Cuttler , Aen >, Cul"'erg P, et al* /#pact o the phenylalanine hy"royla!e gene on

#aternal phenylketonuria outco#e* Pe"iatric!* Dec 2003112(6 Pt 2B1730$1733*

10* 8aternal phenylketonuria* A#erican Aca"e#y o Pe"iatric!* Pe"iatric!200@122B447$*

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