Phenylketonuria

I-Phenylketonuria (PKU) yimeko enqabileyo apho umntwana azalwe engenakho ukwaphula ngokufanelekileyo i-amino acid ebizwa ngokuba yi-phenylalanine.

I-Phenylketonuria (PKU) izuzwe njengelifa, oko kuthetha ukuba idluliswa kwiintsapho. Bobabini abazali kufuneka badlulise ikopi engasebenziyo yofuzo ukuze umntwana abe kwimeko. Xa oku kunjalo, abantwana babo banethuba elinye kwabane lokuchaphazeleka.

Iintsana ezine-PKU zilahlekile i-enzyme ebizwa ngokuba yi-phenylalanine hydroxylase. Kuyafuneka ukwaphula i-amino acid phenylalanine. I-Phenylalanine ifumaneka kukutya okune-protein.

Ngaphandle kwe-enzyme, amanqanaba e-phenylalanine ayakha emzimbeni. Olu lwakhiwo lunokwenzakalisa inkqubo ye-nervous central kwaye lubangele ukonakala kwengqondo.

I-phenylalanine idlala indima kwimveliso yomzimba ye-melanin. I-pigment inoxanduva lolusu kunye nombala weenwele. Ke ngoko, iintsana ezinesi sifo zihlala zinolusu olukhanyayo, iinwele namehlo kunabantakwabo okanye oodade abangenaso esi sifo.

Ezinye iimpawu zingabandakanya:

• Ukulibaziseka kwezakhono zengqondo nezentlalo
• Ubungakanani beNtloko buncinci kakhulu kunesiqhelo
• Ukusebenza kakhulu
• Ukuhamba kweengalo okanye imilenze
• Ukukhubazeka kwengqondo
• Ukuxhuzula
• Irhashalala
• Iinyikima

Ukuba i-PKU ayinyangwa, okanye ukuba ukutya okune-phenylalanine kuyatyiwa, umoya, ulusu, i-wax yendlebe, kunye nomchamo unokuba ne "mousy" okanye "musty" ivumba. Eli vumba libangelwa kukwakhiwa kwezinto ze-phenylalanine emzimbeni.

I-PKU inokufunyanwa ngokulula kuvavanyo lwegazi olulula. Onke amazwe e-United States afuna uvavanyo lwe-PKU lokuvavanywa kwabo bonke abantwana abazelweyo njengenxalenye yephaneli yokuhlola usana olusanda kuzalwa. Uvavanyo lwenziwa ngokuthatha amathontsi ambalwa egazi elusaneni ngaphambi kokuba usana luphume esibhedlele.

Ukuba uvavanyo lokuvavanywa luhle, kufuneka uvavanyo lwegazi kunye nomchamo ukuze kuqinisekiswe isifo. Uvavanyo lwemfuzo nalo luyenziwa.

I-PKU sisifo esinyangekayo. Unyango lubandakanya ukutya okuphantsi kakhulu kwi-phenylalanine, ngakumbi xa umntwana ekhula. Ukutya kufuneka kulandelwe ngokungqongqo. Oku kufuna ukujongwa ngokusondeleyo ngugqirha otyayo okanye ngugqirha, kunye nentsebenziswano yomzali nomntwana. Abo baqhubeka nokutya ukuya ebuntombini banempilo engcono emzimbeni nasengqondweni kunaleyo ingahlaliyo kuyo. "Ukutya ubomi" kuye kwaba ngumgangatho oqhelekileyo iingcali zincoma. Abasetyhini abane-PKU kufuneka balandele ukutya ngaphambi kokukhulelwa kunye nokukhulelwa konke.

Kukho izixa ezikhulu ze phenylalanine kubisi, amaqanda, kunye nokunye ukutya okuqhelekileyo. I-sweetener eyenziweyo iNutraSweet (aspartame) ikwanayo ne phenylalanine. Naziphi na iimveliso eziqukethe i-aspartame kufuneka zithintelwe.

Zininzi iindlela ezenzelwe iintsana ezine-PKU. Ezi zinokusetyenziswa njengomthombo weprotein ophantsi kakhulu kwi-phenylalanine kwaye ulungelelanise ii-amino acid ezishiyekileyo. Abantwana abadala kunye nabantu abadala basebenzisa ifomula eyahlukileyo ebonelela ngeeproteni ngokwexabiso abalifunayo. Abantu abane-PKU kufuneka bathathe ifomula yonke imihla kubomi babo bonke.

Isiphumo kulindeleke ukuba silunge kakhulu ukuba ukutya kulandelwa ngokusondeleyo, ukuqala kungekudala emva kokuzalwa komntwana. Ukuba unyango lulibazisekile okanye imeko ihlala inganyangwa, umonakalo wengqondo uya kwenzeka. Ukusebenza kwesikolo kunokuba nokuthamba kancinci.

Ukuba iiproteni eziqukethe i-phenylalanine azithintelwa, i-PKU inokukhokelela ekukhubazekeni ngokwengqondo ngasekupheleni konyaka wokuqala wobomi.

Ukukhubazeka okukhulu kwengqondo kwenzeka ukuba ukuphazamiseka kunganyangwa. I-ADHD (ingqalelo-deficit hyperactivity disorder) ibonakala iyingxaki eqhelekileyo kwabo banganyamekeliyo kukutya okune-phenylalanine ephantsi kakhulu.

Fowunela umboneleli wakho wezempilo ukuba usana lwakho aluvavanyelwanga i-PKU. Oku kubaluleke ngakumbi ukuba nabani na kusapho lwakho unale ngxaki.

Uvavanyo lwe-enzyme okanye uvavanyo lwemfuzo lunokumisela ukuba ngaba abazali bayayiphatha imfuza yePKU. Isampulu ye-chorionic villus okanye i-amniocentesis inokwenziwa ngexesha lokukhulelwa ukuvavanya usana olungekazalwa lwe-PKU.

Kubaluleke kakhulu ukuba abasetyhini abane-PKU balandele ngokusondeleyo ukutya okungqongqo kwe-phenylalanine zombini ngaphambi kokukhulelwa nakuyo yonke into yokukhulelwa. Ukwakhiwa kwephenylalanine kuya kulonakalisa usana olusakhulayo, nokuba umntwana akasizuzanga njengelifa isifo esipheleleyo.

PKU; I-phenylketonuria yangaphambi kokubeleka

• Uvavanyo lwePhenylketonuria
• Ukuvavanywa kovavanyo olusanda kuzalwa

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UVockley J, uAndersson HC, uAntshel KM, et al; Ikholeji yaseMelika yoNyango lwezoNyango kunye neKomidi yoNyango lweGenomics. Ukusilela kwePhenylalanine hydroxylase: isifo kunye nesikhokelo solawulo. Uhlobo lweMed. Ngo-2014; 16 (2): 188-200. IINKCUKACHA: 24385074 www.ncbi.nlm.nih.gov/pubmed/24385074.