I-Phenylketonuria (fen-ul-key-toe-NU-ree-uh), ebizwa nangokuthi i-PKU, luyifo elingavamile elidluliselwa ezizukulwaneni eliholela ekubunjweni kwamangqamuzana ama-amino acid abizwa ngokuthi yi-phenylalanine emzimbeni. I-PKU ibangelwa yishintsho ku-gene le-phenylalanine hydroxylase (PAH). Le gene iyasiza ekwenzeni i-enzyme edingekayo ukuze iphule i-phenylalanine.
Ngaphandle kwe-enzyme edingekayo ukuze iphule i-phenylalanine, ukwakheka okungozi kungaqala lapho umuntu one-PKU edla ukudla okuneprotheni noma edla i-aspartame, i-sweetener yemvelo. Lokhu kungase kuholele ezinkingeni zempilo ezingathi sína.
Phakathi nokuphila kwabo konke, abantu abane-PKU—izingane, abantwana nabantu abadala—kudingeka balandele ukudla okulinganiselwe i-phenylalanine, etholakala kakhulu ekudleni okuneprotheni. Imithi emisha ingase ivumele abanye abantu abane-PKU ukuba badle ukudla olunezinga eliphezulu noma elingenamkhawulo le-phenylalanine.
Izingane e-United States nakwamanye amazwe amaningi ziqalwa ukuhlolwa kwe-PKU ngokushesha ngemva kokuzalwa. Nakuba ayikho imithi yokwelapha i-PKU, ukuqaphela i-PKU nokuqala ukwelashwa ngokushesha kungasiza ukuvimbela ukungakwazi ukucabanga, ukuqonda nokuxhumana (ukukhubazeka kobuchopho) nezinye izinkinga zempilo ezinkulu.
Izingane ezisanda kuzalwa ezinoku-PKU ekuqaleni azinawo ubuhlungu. Kodwa-ke, ngaphandle kokwelashwa, izingane ngokuvamile zithuthukisa izimpawu ze-PKU phakathi nezinyanga ezimbalwa.
Izimpawu nezimpawu ze-PKU engalashwanga zingaba zibumnene noma ezinzima futhi zingafaka:
Ubunzima be-PKU kuncike ohlotsheni.
Kungakhathaliseki uhlobo, izingane eziningi, izingane nabantu abadala abane-disorder basadinga ukudla okukhethekile kwe-PKU ukuvimbela ubuthakathaka bokuqonda nezinye izinkinga.
Abesifazane abane-PKU futhi bakhulelwe baphazanyiswa uhlobo olunye lokuphuza oluthi yi-PKU yomzali. Uma abesifazane bengalandelanga ukudla okukhethekile kwe-PKU ngaphambi nangesikhathi sokukhulelwa, amazinga e-phenylalanine egazini angaba aphezulu futhi alimaze ingane ezikhula.
Ngisho nabesifazane abanezinhlobo ezingathandeki ze-PKU bangafaka izingane zabo ezingazalwanga engozini ngokungalandelani ukudla kwe-PKU.
Izingane ezizalwa kubesifazane abanama-phenylalanine aphezulu ngokuvamile azilithi i-PKU. Kodwa-ke ingane ingaba nezinkinga ezinkulu uma amazinga e-phenylalanine aphezulu egazini likamama ngesikhathi sokukhulelwa. Ekudalweni, ingane ingaba:
Ngaphezu kwalokho, i-PKU yomzali ingabangela ingane ukuba ibe nokuthuthukiswa okulandelayo, ubuthakathaka bokuqonda nezinkinga zokuziphatha.
Xhumana nodokotela wakho ezimweni ezilandelayo:
Ukuze ube nesifo esidluliselwa ngama-genes amabili afanayo (autosomal recessive disorder), uyafa i-genes ezimbili ezihluke kakhulu, ngezinye izikhathi ebizwa ngokuthi yi-mutations. Uthola eyodwa kumzali ngamunye. Impilo yabo ayithintiwe kakhulu ngoba bane-gene eyodwa kuphela eguqukile. Abathwali ababili banethuba elingu-25% lokuba ne-child engathintekile enama-genes amabili angathintekile. Banethuba elingu-50% lokuba ne-child engathintekile futhi ingumthwali. Banethuba elingu-25% lokuba ne-child ethintekile enama-genes amabili aguqukile.
Ukushintsha kwe-gene (ukuguquka kwe-genetic mutation) kubangela i-PKU, engaba lula, ephakathi noma eqatha. Kumuntu onayo i-PKU, ukuguquka kwe-gene ye-phenylalanine hydroxylase (PAH) kubangela ukungabikho noma ukuncishiswa kwesilinganiso se-enzyme edingekayo ekucubunguleni i-phenylalanine, i-amino acid.
Ukubunjwa okubi kwe-phenylalanine kungakhula lapho umuntu onayo i-PKU edla ukudla okunamaprotheni amaningi, njengobisi, i-cheese, amantongomane noma inyama, noma ama-grains njengasonka ne-pasta, noma i-aspartame, i-artificial sweetener.
Ukuze ingane izuze i-PKU, umama nobaba bobabili kumele babe futhi badlulisele i-gene eguqukile. Le ndlela yokudluliselwa kwesifo ibizwa ngokuthi yi-autosomal recessive.
Kungenzeka ukuba umzali abe ngumthwali — ukuba ne-gene eguqukile ebangela i-PKU, kodwa angabi nesifo. Uma umzali oyedwa kuphela one-gene eguqukile, awekho umngcipheko wokudlulisela i-PKU kwingane, kodwa kungenzeka ukuba ingane ibe ngumthwali.
Ngokuvamile, i-PKU idluliselwa ezinganeni abazali ababili abangabathwali be-gene eguqukile, kodwa abayazi.
Izimbangela ezingozi zokudluliselwa kwe-PKU zihlanganisa:
Ukwehluleka ukwelashwa kwe-PKU kungaholela ezingxakini kubasanda kuzalwa, ezinganeni nasekubantu abadala abane leli gciwane. Uma abesifazane abane-PKU benamaqondo aphezulu e-phenylalanine egazini ngesikhathi sokukhulelwa, lokhu kungalimaza ingane yabo engakazalwa.
Ukwehluleka ukwelashwa kwe-PKU kungaholela ku:
Uma unayo i-PKU futhi ucabanga ukuthi ukhulelwe:
Ukuhlolwa kwabakhulelwe kusatshwa cishe zonke izimo ze-phenylketonuria. Zonke izifundazwe ezingama-50 e-United States zidinga ukuba abakhulelwe bahlolwe yi-PKU. Amazwe amaningi nawo avame ukuhlola izingane ezintsha nge-PKU.
Uma une-PKU noma umlando womndeni wayo, umhlinzeki wakho wezinsizakalo zezempilo angakuncoma ukuhlolwa kokuhlola ngaphambi kokukhulelwa noma ukuzalwa. Kungenzeka ukuthola abathwali be-PKU ngokuhlolwa kwegazi.
Ukuhlolwa kwe-PKU kwenziwa ngosuku olulodwa noma amabili ngemva kokuzalwa komntwana wakho. Ukuze uthole imiphumela eqondile, ukuhlolwa kwenziwa ngemva kokuba umntwana wakho eneminyaka engu-24 ubudala futhi ngemva kokuba umntwana wakho esethole iprotheni ekudleni.
Uma lo mkhuba ubonisa ukuthi umntwana wakho angaba ne-PKU:
Ukuqala ukwelashwa ngokushesha nokuqhubeka nokuphathwa kokuphila konke kungasiza ekunciphiseni ukukhubazeka kobuchopho nezinye izinkinga zempilo ezikhulu. Izindlela zokwelapha eziyinhloko ze-PKU zifaka:
Amasuye okusiza ekulawuleni i-PKU afaka ukugcina ulwazi lokudla okudliwayo, ukulinganisa ngokunembile, nokuba nomqondo. Njenganoma yini, uma la masu eziqeqeshwa kakhulu, kuyoba lula futhi ube nokukhathazeka okuncane. Uma wena noma ingane yakho ulandela ukudla okune-phenylalanine ephansi, kuzodingeka ugcine amarekhodi okudla okudliwayo nsuku zonke.
Ukuze kube nembile ngangokunokwenzeka, linganisa izingxenye zokudla usebenzisa izimbiza zokulinganisa eziqondile nezihlanganisi kanye nesikali lesikhishi esifunda ngamagremu. Inani lokudla liqhathaniswa nohlu lokudla noma lisetshenziswa ukubala inani le-phenylalanine edliwayo nsuku zonke. Ukudla ngakunye kanye nesidlo sakusihlwa kuhlanganisa ingxenye ehlukanisiwe kahle yefomula yakho ye-PKU yansuku zonke.
Amathayari okudla, izinhlelo zikhompyutha kanye nezinhlelo zokusebenza ze-smartphone ziyatholakala ezibala inani le-phenylalanine ekudleni kwengane, ekudleni okuqinile, kwifomula ye-PKU, nakwizithako ezivamile zokubhaka nokupheka.
Ukuhlela ukudla noma ukujikeleza kokudla kokudla okuqondisiwe kungasiza ekunciphiseni ezinye zezinto zokulandelela zansuku zonke.
Khuluma nodokotela wakho wezondlo ukuze uthole ukuthi ungaba nomqondo kangakanani ngokudla ukuze uhlale uqaphile. Isibonelo, sebenzisa izinongo nezindlela ezahlukahlukene zokupheka ukuguqula imifino ye-phenylalanine ephansi ibe yimenyu ephelele yezitsha ezahlukahlukene. Ama-herbs kanye nezinongo ezine-phenylalanine ephansi zingaba nencasa eningi. Khumbula nje ukulinganisa nokubala yonke into futhi ulungise izindlela zokupheka ngokudla kwakho okuqondile.
Uma unezinye izimo zempilo, kungadingeka ucabange ngazo uma uhlela ukudla kwakho. Khuluma nodokotela wakho noma nodokotela wezondlo uma unemibuzo.
Ukuphila ne-PKU kungaba inselele. La masu angasiza:
I-Phenylketonuria ivame ihlonishwa ngokuhlolwa kwabantwana abasanda kuzalwa. Uma ingane yakho ihlonishwa nge-PKU, cishe uzoyiswa esibhedlela noma ekliniki ekhethekile enenhlolokhulu ephakeme ephila i-PKU nodokotela wezondlo onolwazi lokudla kwe-PKU.
Nansi imininingwane ezokusiza ukuba ube lungile ekuhlanganyeleni kwakho bese wazi ukuthi yini okulindelekile.
Ngaphambi kokubonisana kwakho:
Eminye imibuzo ongayibuza ingafaka:
Umhlinzeki wakho wezempilo cishe uzokubuza imibuzo eminingana. Isibonelo:
Umshwana wokuzihlangula: I-August iyinkundla yolwazi lwezempilo futhi izimpendulo zayo azihlanganisi iseluleko sezokwelapha. Njalo thintana nochwepheshe bezokwelapha onelayisensi eduze nawe ngaphambi kokwenza noma yiluphi ushintsho.