Ukuthi yini i-Phenylketonuria? Izimpawu, Izimbangela, & Ukwelashwa

I-Phenylketonuria, evame ukubizwa ngokuthi yi-PKU, iyisimo esingavamile sezofuzo lapho umzimba wakho ungakwazi ukwahlukanisa ngokufanele i-amino acid ebizwa ngokuthi yi-phenylalanine. Le amino acid itholakala ekudleni okuningi okunamaprotheni afana nenyama, amaqanda, nemikhiqizo yobisi.

Uma umuntu enesifo se-PKU, i-phenylalanine iyaqina egazini labo futhi ingalimaza ubuchopho uma ingalashwa. Izindaba ezinhle ukuthi ngokutholakala kwasekuqaleni ngokuhlola abathandwayo abasanda kuzalwa nokuphathwa kokudla okufanele, abantu abanesifo se-PKU bangaphila impilo evamile, enempilo ngokuphelele.

Iyini i-Phenylketonuria?

I-PKU kwenzeka lapho umzimba wakho ungenayo noma unenani elincane lensimbi ebizwa ngokuthi yi-phenylalanine hydroxylase. Cabanga ngale nsimbi njengomsebenzi okhethekile umsebenzi wakhe ukuguqula i-phenylalanine ibe enye i-amino acid ebizwa ngokuthi yi-tyrosine umzimba wakho ongayisebenzisa ngokuphephile.

Ngaphandle kwale nsimbi eyanele, i-phenylalanine ihlangana egazini lakho nasezindaweni. Amazinga aphezulu e-phenylalanine abulala amangqamuzana ebuchopho, ikakhulukazi phakathi nobuhlungu nobuntwana lapho ubuchopho busathuthuka.

I-PKU ithinta cishe ingane eyi-1 ku-10,000 kuya ku-15,000 ezalwa e-United States. Ikhona kusukela ekuzalweni futhi idinga ukuphathwa okuphila konke, kodwa ngokunakekelwa okufanele, akudingeki ukulinganiselwe yilokho ongakukwazi ukukufinyelela ekuphileni.

Ziyini izimpawu ze-Phenylketonuria?

Izingane ezizalwa ne-PKU ngokuvamile zibonakala zivamile ngokuphelele ekuzalweni. Noma kunjalo, izimpawu zingathuthuka phakathi nezinyanga ezimbalwa zokuqala uma isimo singabonakali futhi singalashwa.

Nazi izimpawu zokuqala ezingase zivele kubantwana abangenayo i-PKU engalashwanga:

• Ubuthakathaka bobuchopho obuqala ukubonakala ngokuhamba kwesikhathi
• Ukulibaziseka ekuthuthukiseni ukuhlala phansi, ukuqhubeka, noma ukuhamba
• Izinkinga zokuziphatha ezifana nokuqwasha noma udlakela
• Ukuhlupheka noma ukuzamazama
• Izihlungu zesikhumba noma i-eczema
• Ukunuka okufana nombozo noma umusha emphefumulweni, esikhuneni, noma emchameni
• Ukhuni olukhanyayo nolweminwe ngenxa yokunciphisa ukukhiqizwa kwe-melanin
• Ubukhulu benhloko encane uma kuqhathaniswa nezinye izingane ezineminyaka efanayo

Ukunuka okufana nombozo kwenzeka ngoba i-phenylalanine engaphezulu iguqulwa ibe ezinye izinto umzimba wakho uzikhipha ngomchamo nangesekhuni. Lezi zimpawu ziyavikeleka ngokuphelele lapho i-PKU ibambeka ngokushesha futhi ilawulwe kahle.

Kwezinye izimo, abantu bangaba nesimo esibuthakathaka se-PKU esingabangeli izimpawu ezinzima kodwa kusadingeka ukuqapha ukudla. Kungakho ukuhlola abathandwayo abasanda kuzalwa kubaluleke kakhulu ekubambeni zonke izinhlobo zesimo.

Ziyini izinhlobo ze-Phenylketonuria?

I-PKU ayisiyo nje isimo esisodwa kepha empeleni ihlanganisa izifo eziningana ezihlobene ezihlobene nendlela umzimba wakho uqapha ngayo i-phenylalanine. Umehluko omkhulu phakathi kwezinhlobo yindlela umsebenzi wenziwe osele ukhona emzimbeni wakho.

I-PKU yendabuko yiyona ndlela enzima kakhulu, lapho une-enzyme activity encane noma engenayo ye-phenylalanine hydroxylase. Abantu abanesifo se-PKU yendabuko kudingeka balandele ukudla okune-phenylalanine ephansi impilo yabo yonke.

I-PKU ebuthakathaka noma i-hyperphenylalaninemia engaphandle kwe-PKU kwenzeka lapho usenomsebenzi wenziwe osele ukhona. Ungase udinga ukushintsha ukudla, kodwa ngokuvamile azikhawulelwe kakhulu kunalokho okudingekayo kwi-PKU yendabuko.

Kukhona futhi uhlobo olungavamile oluthi yi-PKU ebulalayo noma i-PKU engavamile, ehlanganisa izinkinga ngezinye izinsimbi ezidingekayo ukuze zisebenze kabusha i-cofactor esiza i-phenylalanine hydroxylase ukusebenza. Lolu hlobo kunzima ukulwelapha futhi lungase lungaphenduli kahle ekushintsheni kokudla kuphela.

Iyini imbangela ye-Phenylketonuria?

I-PKU ibangelwa ukushintsha (ukuguqulwa) ku-PAH gene, enikeza imiyalo yokwenza i-phenylalanine hydroxylase enzyme. Uzuza lesi simo sezofuzo kubazali bakho.

Ukuthuthukisa i-PKU, kudingeka uzuze amakhophi amabili e-gene eguquliwe, elinye elivela kumzali ngamunye. Lokhu kubizwa ngokuthi ukudluliselwa kwe-autosomal recessive. Uma uzuza ikhophi elilodwa eguquliwe, ungumthwali kodwa ngeke ube ne-PKU.

Uma bobabili abazali bangabathwali, ukukhulelwa ngakunye kunenani le-25% lokuba nomntwana one-PKU, i-50% ithuba lokuba nomntwana ongumthwali, kanye ne-25% ithuba lokuba nomntwana ongenayo ukuguqulwa. Abathwali ngokuvamile abanazo izimpawu namazinga e-phenylalanine avamile.

Ngaphezu kwe-1,000 ukuguqulwa okuhlukene ku-PAH gene kuye kwabonakala. Ezinye izinguquko zisusa ngokuphelele umsebenzi wenziwe, kanti ezinye ziwunciphisa ngezigaba ezihlukahlukene, okuchaza ukuthi ukubaluleka kwe-PKU kungase kuhluke phakathi kwabantu.

Nini kufanele ubone udokotela nge-Phenylketonuria?

Emazweni amaningi athuthukile, bonke abathandwayo abasanda kuzalwa bahlolwa yi-PKU phakathi kwezinsuku ezimbalwa zokuqala zokuphila, ngakho ngokuvamile uzokwazi ngesimo ngaphambi kokuba izimpawu zivele. Uma ingane yakho iphumelele, uzokwamukelwa ochwepheshe ngokushesha.

Kufanele uxhumane nodokotela wakho ngokushesha uma ingane yakho ibonisa noma yiziphi izimpawu zokulibala ekuthuthukiseni, ukushintsha kokuziphatha, noma ukunuka okufana nombozo, ikakhulukazi uma ukuhlolwa kwabathandwayo abasanda kuzalwa kungakwenziwa noma uma ukhathazekile ngemiphumela yokuhlola.

Abantu abadala abanesifo se-PKU badinga ukuqapha njalo impilo yabo yonke. Xhumana nodokotela wakho uma uhlangabezana nobunzima ekuqapheleni ukudla kwakho, ukushintsha kwemizwelo, noma ukuxilonga izinkinga, njengoba lokhu kungase kubonise ukuthi amazinga akho e-phenylalanine aphezulu kakhulu.

Abesifazane abanesifo se-PKU abahlela ukukhulelwa badinga ukunakekelwa okukhethekile kwezokwelapha. Amazinga aphezulu e-phenylalanine phakathi kokukhulelwa angalimaza ingane ethuthukayo, ngisho noma ingane ingenawo i-PKU.

Ziyini izici ezingaba yingozi ze-Phenylketonuria?

I-risk factor eyinhloko ye-PKU ukuba nabazali bobabili abaphethe ukuguqulwa ku-PAH gene. Njengoba i-PKU izuzwe, isizinda sakho sezofuzo sidlala indima ebaluleke kakhulu ekuqondeni ingozi yakho.

Amaqembu athile ezizwe anezinga eliphezulu labathwali be-PKU. Isimo sivame kakhulu kubantu abavela eYurophu futhi aluvamile kulabo abavela e-Afrika, e-Hispanic, noma e-Asia, yize lingase libe khona kunoma yiliphi iqembu lezizwe.

Izici zezwe zingase futhi zithinte ingozi. Abanye abantu abaye bahlukaniswa ngokomlando, njengalabo base-Ireland, banezinga eliphezulu labathwali ngenxa yalokho ochwepheshe bezofuzo abakubiza ngokuthi "umphumela womsunguli."

Ukuba nomlando womndeni we-PKU noma ukuba uhlobene nomuntu onesimo kuya kwandisa amathuba akho okuba ngumthwali. Ukwelulekwa kwezofuzo kungakusiza ukuqonda ingozi yakho siqu nezinketho zokuhlela umndeni.

Ziyini izinhlanganisela ezingase zenzeke ze-Phenylketonuria?

Uma i-PKU ilawulwa kahle kusukela ekuzalweni, izinhlanganisela eziningi zingavikeleka ngokuphelele. Noma kunjalo, uma ishiywa ingalashwa noma ilawulwa kabi, i-PKU ingabangela izinkinga ezinzima zesikhathi eside.

Inhlanganisela enzima kakhulu yiyona buthakathaka bobuchopho, engase ibe nzima futhi ingaguquki uma amazinga aphezulu e-phenylalanine ehlala khona ekuthuthukiseni ubuchopho obuqalayo. Lokhu ngokuvamile kwenzeka uma i-PKU ingabonakali noma ingalashwa ezinyangeni ezimbalwa zokuqala zokuphila.

Nazi ezinye izinhlanganisela ezingase zenzeke ze-PKU engalawulwa kahle:

• Izinkinga zokuziphatha neze-psychiatric kufaka phakathi i-ADHD, ukukhathazeka, nokucindezeleka
• Izifo zokubamba ezingase zibe nzima ukuzilawula
• Ukuzamazama nezinye izinkinga zokunyakaza
• Ukulibaziseka kokukhula nobukhulu bomzimba obuncane kunokuvamile
• Izinkinga zesikhumba kufaka phakathi i-eczema nezihlungu
• Ukuhlupheka kwenhliziyo ezimweni ezingavamile
• Izinkinga zethambo nokukhuluphala kwenkinga yokugqwala

Ngisho nokulawula kokudla okuhle, abanye abantu abadala abanesifo se-PKU bangase babe nemiphumela ebuthakathaka yokuqonda noma ukushintsha kwemizwelo uma amazinga abo e-phenylalanine engekho kahle. Ukuqapha njalo kusiza ukuvimbela lezi zinkinga.

I-Maternal PKU syndrome iyinkinga enzima kwabesifazane abanesifo se-PKU abakhulelwa. Amazinga aphezulu e-phenylalanine angabangela ukungapheleli kokuzalwa, ubuthakathaka bobuchopho, nezinhlungu zenhliziyo engwaneni, kungakhathaliseki ukuthi ingane inesifo se-PKU noma cha.

I-Phenylketonuria ihlonishwa kanjani?

I-PKU ihlolwa ikakhulu ngokuhlola abathandwayo abasanda kuzalwa, okuhlanganisa ukuthatha isampula yengqimba yengane yakho ngesihlakala phakathi kwamahora angu-24 kuya kwangu-48 ngemuva kokuzalwa. Lolu hlolo luqapha amazinga e-phenylalanine egazini.

Uma ukuhlolwa kokuqala kubonisa amazinga aphezulu e-phenylalanine, kwenziwa ukuhlolwa okwengeziwe ukuqinisekisa ukuxilongwa. Lokhu kungase kuhlanganise ukuhlolwa kwegazi okuphindaphindwayo, ukuhlolwa komchamo, nokuhlolwa kwezofuzo ukuthola ukuguqulwa okuthile okuhilelekile.

Odokotela baqapha futhi amazinga e-tyrosine futhi balinganisa izinga le-phenylalanine-to-tyrosine, okusiza ekuqondeni ukubaluleka kwesimo nokukhokhela izinqumo zokwelapha. Ngezinye izikhathi, kwenziwa ukuhlolwa ukuqapha umsebenzi wenziwe ngokuqondile.

Ezimweni ezingavamile lapho ukuhlolwa kwabathandwayo abasanda kuzalwa kungakwenziwa noma kungachazeki, i-PKU ingase ixilongwe kamuva lapho izimpawu zivele. Ukuhlolwa kwegazi nomchamo kungathola amazinga aphezulu e-phenylalanine kunoma yiliphi iminyaka.

Ukwenzelwa izifundo zezofuzo nokuhlolwa komndeni kungase kunconywe ukuthola abathwali nokwenza ulwazi lwezinqumo zokuhlela umndeni esikhathini esizayo.

Iyini ukwelashwa kwe-Phenylketonuria?

Ukwelashwa okuyinhloko kwe-PKU ukulandela ukudla okune-phenylalanine ephansi okuhleliwe impilo yakho yonke. Lokhu kusho ukulinganisela noma ukugwema ukudla okunamaprotheni aphezulu, njengoba amaprotheni ane-phenylalanine.

Uzosebenza nodokotela obhaliswe njengomqeqeshi wokudla oqeqeshwe kwi-PKU ukwenza uhlelo lokudla oluhlangabezana nazo zonke izidingo zakho zezondlo ngenkathi ugcina amazinga e-phenylalanine ezingeni eliphephile. Lokhu ngokuvamile kuhlanganisa ukudla imifino, imifino, nokudla okukhethekile okuneprotheni ephansi.

Izindlela zokwelapha ezikhethekile nezinsiza ziyingxenye ebalulekile yokwelashwa kwe-PKU. Lezi zinikeza amaprotheni, amavithamini, neziminerali ozidingayo ngaphandle kwe-phenylalanine. Abantu abaningi abanesifo se-PKU bathembele kulezi zindlela njengomthombo wabo oyinhloko wamaprotheni.

Ukuhlolwa kwegazi okuvamile kubalulekile ekuqapheleni amazinga akho e-phenylalanine nokulungisa ukudla kwakho njengoba kudingeka. Lokhu kuhlolwa kungase kwenziwe masonto onke ebuntwaneni, bese kwenziwa kancane njengoba ukhula namazinga akho eqina.

Abanye abantu abanezimpawu ezibuthakathaka ze-PKU bangase bazuze emithi ebizwa ngokuthi yi-sapropterin (Kuvan), engasiza ekuthuthukiseni umsebenzi wenziwe osele ukhona. Noma kunjalo, le mithi ayisebenzi kubo bonke futhi ngokuvamile isebenziswa kanye nokulawulwa kokudla.

Kwabo abanezimpawu ezinzima kakhulu ze-PKU, ukwelashwa okusha njengokwelashwa kokufakwa kwesibalo nokwelashwa kwe-gene kucwaningwa, yize lokhu kungakabi khona ngokubanzi.

Ungayilawula kanjani i-PKU ekhaya?

Ukulawula i-PKU ekhaya kudinga ukuhlela ngokucophelela nokukhathalela imininingwane, kodwa kuba yinto evamile ngokuzivocavoca. Okubalulekile ukufunda ukufunda imibhalo yokudla nokuqonda ukuthi yikuphi ukudla okuphephile ukukudla.

Gcina idayari yokudla ukuqapha ukudla kwakho kwe-phenylalanine nokukusiza ukuthola izindlela uma amazinga akho egazi ekhuphuka. Abantu abaningi bathola ukuthi izinhlelo zokusebenza ze-smartphone ziwusizo ekubaleni okuqukethwe kwe-phenylalanine ekudleni.

Gcwalisa ikhishi lakho ngokudla okusebenzayo kwe-PKU njenge-low-protein breads, i-pasta, nama-flour. Izinkampani eziningi zokudla ezikhethekile zenze imikhiqizo eklanyelwe ngokukhethekile abantu abanesifo se-PKU enuka kahle futhi yenza ukuhlela ukudla kube lula.

Lungiselela ukudla kusengaphambili uma kungenzeka, futhi uhlale unezinhlanzi eziphephile. Lokhu kusiza ukuvimbela izimo lapho ungase uthande ukudla ukudla okungase kukhulise amazinga akho e-phenylalanine.

Thatha ifomula yakho yezokwelapha noma izinsiza njalo, ngisho noma ungayithandi incasa. Lezi zinikeza izondlo ezibalulekile ongenakuzithola ekudleni kwakho okulinganiselwe kuphela.

Kufanele ulungiselele kanjani i-aphoyintimenti yakho yodokotela?

Ngaphambi kwe-aphoyintimenti yakho, buthana nemiphefumulo yakho yakamuva yokuhlolwa kwegazi nedayari yokudla uma uyigcina. Lolu lwazi lusiza iqembu lakho lokunakekelwa kwezempilo ukuqonda ukuthi uhlelo lwakho lokwelapha olukhona lusebenza kahle kangakanani.

Bhala phansi noma yiziphi izimpawu ozihlangabezane nazo, ukushintsha kwesifiso sakho sokudla, noma izinselele ozibhekana nazo ngokudla kwakho. Ngisho nokushintsha okuncane kungase kube kubalulekile ekulawuleni i-PKU ngokuphumelelayo.

Lungiselela uhlu lwemibuzo mayelana nokwelashwa kwakho, njengokuthi noma yikuphi ukuguqulwa kokudla kwakho okungase kube usizo noma uma kukhona izinketho zokwelapha ezintsha okufanele uzicabangele.

Uma uhlela ukukhulelwa, ukuthatha imithi emisha, noma ukubhekana nezinguquko ezinkulu zokuphila, xoxa ngalokhu neqembu lakho lokunakekelwa kwezempilo. Bangakusiza ukulungisa uhlelo lwakho lokwelapha ngokufanele.

Letha ilungu lomndeni noma umngani uma ufuna ukusekelwa, ikakhulu uma uxoxa ngezinqumo eziyinkimbinkimbi zokwelapha noma uma uzizwa ukhuluphala ngokulawula isimo sakho.

Iyini into ebaluleke kakhulu mayelana ne-Phenylketonuria?

I-PKU iyisimo sezofuzo esinzima, kodwa futhi ingenye yezifo ezifezwa kahle ezifuywe uma zibambeka ngokushesha. Ngokulawulwa kokudla okufanele nokukhathalelwa kwezokwelapha, abantu abanesifo se-PKU bangaphila impilo evamile, enempilo ngokuphelele.

Into ebaluleke kakhulu okumele uyikhumbule ukuthi ukutholakala kwasekuqaleni nokwelashwa okuqhubekayo kwenza umehluko omkhulu. Ngenxa yezinhlelo zokuhlola abathandwayo abasanda kuzalwa, izingane eziningi ezine-PKU zitholakala futhi zilawulwa ngaphambi kokuba kube khona ukulimala.

Ngenkathi ukulandela ukudla okune-phenylalanine ephansi kudinga ukuzimisela nokuhlela, kuqondakala ngokuphelele ngokusekelwa okufanele nezinsiza. Abantu abaningi abanesifo se-PKU bahola imisebenzi ephumelelayo, babe nemindeni, futhi bahlanganyela ngokugcwele kuzo zonke izici zokuphila.

Uma wena noma othandekayo wakho une-PKU, khumbula ukuthi awuwedwa. Kukhona izinhlangano ezinhle zokusekela, abahlinzeki bezempilo abakhethekile, nezinketho zokwelapha ezithuthukayo ezikhona ukukusiza ukhule.

Imibuzo evamile ebuzwa mayelana ne-Phenylketonuria

Ingabe abantu abanesifo se-PKU bangadla ukudla okuvamile?

Abantu abanesifo se-PKU bangadla ukudla okuningi "okuvamile," kodwa kudingeka bakhethe ngemithombo yamaprotheni. Imifino eminingi nemifino ilungile, futhi kukhona izinhlobo ze-low-protein ze-breads, i-pasta, nezinye izinto eziyisisekelo. Ngenkathi bengenakudla ukudla okunamaprotheni aphezulu njengenyama, izinhlanzi, amaqanda, nobisi ngezilinganiso ezivamile, ngokuvamile bangaba nezingxenye ezincane, ezilinganiselwe kuye ngezincomo zabo zomuntu siqu.

Ingabe i-PKU iyaphiliswa?

Okwamanje, ayikho impilo ye-PKU, kodwa ilawulwa kakhulu. Ukudla okune-phenylalanine ephansi nokulawulwa kwezokwelapha kungavimbela ngokuphelele izinhlanganisela ezinzima ezihlobene nesimo. Abacwaningi basebenza ezimpilweni ezingase zibe khona, kufaka phakathi ukwelashwa kwe-gene nokufakwa kwesibalo, kodwa lokhu kusaphenywa.

Ingabe abesifazane abanesifo se-PKU bangaba nezingane ezimpilo?

Yebo, abesifazane abanesifo se-PKU bangaba nezingane ezimpilo, kodwa kudinga ukuhlela ngokucophelela nokugadwa kwezokwelapha. Kudingeka bafinyelele futhi bagcine amazinga e-phenylalanine ephansi kakhulu ngaphambi kokukhulelwa naphakathi kokukhulelwa. Lokhu ngokuvamile kusho ukulandela ukudla okulinganiselwe kakhulu kunokuvamile, kodwa ngokulawulwa okufanele, ingozi yokungapheleli kokuzalwa inganciphisa kakhulu.

Ingabe i-PKU ithinta isikhathi sokuphila?

Uma ilawulwa kahle kusukela ekuzalweni, i-PKU ayithinti kakhulu isikhathi sokuphila. Abantu abalawulwa kahle yi-PKU bangaphila isikhathi eside njenganoma ubani omunye. Okubalulekile ukugcina ukulawula kokudla okuhle nokuqapha njalo kwezokwelapha impilo yonke.

Kwenzekani uma umuntu onesifo se-PKU edla ngephutha ukudla okunamaprotheni aphezulu?

Ukudla ngezikhathi ezithile ukudla okunamaprotheni aphezulu ngeke kubangele ukulimala ngokushesha, kodwa kungase kukhulise amazinga e-phenylalanine egazini okwesikhashana. Lokhu kungase kubangele izimpawu zesikhashana ezifana nobunzima bokuqonda, ukushintsha kwemizwelo, noma izikhathi zokukhathazeka. Into ebalulekile ukubuyela emuva ekudleni okufanele nokukwazisa iqembu lakho lokunakekelwa kwezempilo, elingase lincome ukuqapha kwegazi okwengeziwe.