I-Phenylketonuria (PKU)

-Delile

• Izimpawu ze-phenylketonuria
• Izimbangela phenylketonuria
• Kutholakala kanjani
• Izinketho zokwelashwa
• Ukudla
• Imithi
• Ukukhulelwa kanye phenylketonuria
• Umbono wesikhathi eside wabantu abane-phenylketonuria
• Ngabe i-phenylketonuria ingavinjelwa?

Yini i-phenylketonuria?

I-Phenylketonuria (PKU) yisimo sezakhi zofuzo esingajwayelekile esidala ukuthi i-amino acid ebizwa nge-phenylalanine yakhele emzimbeni. Ama-amino acid ayizakhi zokwakha amaprotheni. I-Phenylalanine itholakala kuwo wonke amaprotheni nakwezinye izinto ezinoshukela zokufakelwa.

I-Phenylalanine hydroxylase iyi-enzyme umzimba wakho oyisebenzisayo ukuguqula i-phenylalanine ibe yi-tyrosine, edinga umzimba wakho ukudala ama-neurotransmitters afana ne-epinephrine, norepinephrine, ne-dopamine. I-PKU ibangelwa isici esakhiweni esisiza ukudala i-phenylalanine hydroxylase. Lapho le enzyme ilahlekile, umzimba wakho awukwazi ukuphula i-phenylalanine. Lokhu kubangela ukwakheka kwe-phenylalanine emzimbeni wakho.

Izingane e-United States zihlolelwa i-PKU ngemuva nje kokuzalwa. Lesi simo asijwayelekile kuleli, sithinta kuphela usana olulodwa kwezingu-10 000 kuya ku-15,000 ezisanda kuzalwa unyaka nonyaka. Izimpawu nezimpawu ezinzima ze-PKU azivamile e-United States, njengoba ukuhlolwa kwangaphambi kwesikhathi kuvumela ukwelashwa ukuqala ngokushesha ngemuva kokubeletha. Ukuxilongwa nokwelashwa kusenesikhathi kungasiza ekunciphiseni izimpawu ze-PKU futhi kuvimbele ukulimala kobuchopho.

Izimpawu ze-phenylketonuria

Izimpawu ze-PKU zingahluka ukusuka komoya kuya kokunzima. Ifomu elibi kakhulu lalesi sifo laziwa njenge-PKU yakudala. Usana olune-PKU yakudala lungabonakala lujwayelekile ezinyangeni ezimbalwa zokuqala zempilo yalo. Uma ingane ingalashwa nge-PKU ngalesi sikhathi, izoqala ukuthuthukisa lezi zimpawu ezilandelayo:

• isithuthwane
• ukuthuthumela, noma ukuthuthumela nokuqhaqhazela
• ukukhula okungakhuli
• ukukhathazeka ngokweqile
• izimo zesikhumba ezifana ne-eczema
• iphunga elimnandi lokuphefumula kwabo, isikhumba noma umchamo

Uma i-PKU ingatholakali ngesikhathi sokuzalwa futhi ukwelashwa kungaqalwa ngokushesha, lesi sifo singadala:

• ukulimala kobuchopho okungenakulungiseka nokukhubazeka kwengqondo phakathi nezinyanga ezimbalwa zokuqala zokuphila
• izinkinga zokuziphatha nokuquleka ezinganeni ezindala

Ifomu elibi kakhulu le-PKU libizwa ngokuthi i-PKU ehlukile noma i-non-PKU hyperphenylalaninemia. Lokhu kwenzeka lapho ingane ine-phenylalanine eningi kakhulu emzimbeni wayo. Izinsana ezinale ndlela yokuphazamiseka zingaba nezimpawu ezimnene kuphela, kepha kuzodingeka zilandele indlela yokudla ekhethekile ukuvimbela ukukhubazeka kwengqondo.

Lapho nje kudliwe ukudla okuthile kanye nezinye izindlela zokwelashwa ezidingekayo, izimpawu ziqala ukuncipha. Abantu abane-PKU abaphatha kahle ukudla kwabo ngokuvamile abakhombisi zimpawu.

Izimbangela phenylketonuria

I-PKU yisimo esizuzwe njengefa esibangelwa isici esakhiweni se-PAH. Uhlobo lwe-PAH lusiza ukudala i-phenylalanine hydroxylase, i-enzyme ebhekele ukwephula i-phenylalanine. Ukwakheka okuyingozi kwe-phenylalanine kungenzeka lapho othile edla ukudla okuneprotheni ephezulu, njengamaqanda nenyama.

Bobabili abazali kumele badlulisele uhlobo olungalungile lohlobo lwe-PAH ukuze ingane yabo izuze lesi sifo. Uma ngabe umzali oyedwa edlulisa isakhi sofuzo esishintshiwe, ingane ngeke ibe nazimpawu, kepha iyoba ngumphathi wozalo.

Kutholakala kanjani

Kusukela ngawo-1960, izibhedlela e-United States bezilokhu zihlola izingane ezisanda kuzalwa nge-PKU ngokuthatha isampula segazi. Udokotela usebenzisa inaliti noma i-lancet ukuthatha amaconsi ambalwa egazi esithendeni sengane yakho ukuhlola i-PKU nezinye izifo zofuzo.

Ukuhlolwa kokuhlola kwenziwa lapho ingane inosuku olulodwa kuya kwezimbili ubudala futhi isisesibhedlela. Uma ungayilethi ingane yakho esibhedlela, uzodinga ukuhlela ukuhlolwa kokuhlolwa nodokotela wakho.

Ukuhlolwa okungeziwe kungenziwa ukuqinisekisa imiphumela yokuqala. Lezi zivivinyo zifuna ukutholakala kokuguqulwa kwezakhi zofuzo kwe-PAH okubangela i-PKU. Lezi zivivinyo zivame ukwenziwa kungakapheli amasonto ayisithupha ngemuva kokuzalwa.

Uma ingane noma umuntu omdala ekhombisa izimpawu ze-PKU, njengokulibaziseka kokukhula, udokotela uzo-oda ukuhlolwa kwegazi ukuqinisekisa ukuxilongwa. Lokhu kuhlolwa kuhilela ukuthatha isampula yegazi nokuyihlaziya ukuze kutholakale i-enzyme edingekayo ukuze kudilizwe i-phenylalanine.

Izinketho zokwelashwa

Abantu abane-PKU bangazikhulula izimpawu zabo futhi bavimbele izinkinga ngokulandela indlela ekhethekile yokudla nangokuphuza imithi.

Ukudla

Indlela eyinhloko yokwelapha i-PKU ngukudla ukudla okukhethekile okunciphisa ukudla okuqukethe i-phenylalanine. Izinsana ezine-PKU zinganikezwa ubisi lwebele. Imvamisa kudingeka futhi badle ifomula ekhethekile eyaziwa njengeLofenalac. Lapho ingane yakho isikhule ngokwanele ukuthi ingadla ukudla okuqinile, kufanele ugweme ukuyivumela idle ukudla okunamaprotheni amaningi. Lokhu kudla kufaka:

• amaqanda
• ushizi
• amantongomane
• ubisi
• ubhontshisi
• inyama yenkukhu
• yenkomo
• inyama yengulube
• inhlanzi

Ukuqinisekisa ukuthi basathola inani elanele lamaprotheni, izingane ezine-PKU zidinga ukusebenzisa ifomula le-PKU. Iqukethe wonke ama-amino acid adingwa ngumzimba, ngaphandle kwe-phenylalanine. Kukhona nokudla okuneprotheni ephansi, ukudla okulungele i-PKU okutholakala ezitolo ezikhethekile zezempilo.

Abantu abane-PKU kuzofanela balandele le mikhawulo yokudla futhi basebenzise ifomula le-PKU ezimpilweni zabo zonke ukuphatha izimpawu zabo.

Kubalulekile ukuqaphela ukuthi izinhlelo zokudla ze-PKU ziyahlukahluka kuye ngomuntu. Abantu abane-PKU badinga ukusebenza eduze nodokotela noma nodokotela wokudla ukuze balondoloze ibhalansi efanelekile yomsoco ngenkathi kunciphisa ukudla kwabo i-phenylalanine. Futhi kufanele baqaphe amazinga abo e-phenylalanine ngokugcina amarekhodi enani le-phenylalanine ekudleni abakudlayo usuku lonke.

Ezinye izishayamthetho zombuso zenze izikweletu ezihlinzeka ngemishwalense ethile yokudla namafomula adingekayo ukwelapha i-PKU. Buza isishayamthetho sakho sombuso kanye nenkampani yomshuwalense wezokwelapha ukuthola ukuthi ngabe lokhu kutholakala kuyatholakala yini kuwe. Uma ungenawo umshwalense wezokwelapha, ungabheka eminyangweni yangakini yezempilo ukuze ubone ukuthi iziphi izindlela ezingatholakala zokukusiza ukuthi ukhokhele ifomula le-PKU.

Imithi

I-United States Food and Drug Administration (FDA) isanda kuvumela i-sapropterin (Kuvan) yokwelashwa kwe-PKU. ISapropterin isiza ukwehlisa amazinga e-phenylalanine. Lo muthi kufanele usetshenziswe ngokuhambisana necebo elikhethekile lokudla le-PKU. Noma kunjalo, ayisebenzi kuwo wonke umuntu one-PKU. Kusebenza kakhulu ezinganeni ezinamacala amancane we-PKU.

Ukukhulelwa kanye phenylketonuria

Owesifazane one-PKU angaba sengozini yezinkinga, kufaka phakathi ukuphuma kwesisu, uma bengalandeli uhlelo lokudla lwe-PKU phakathi neminyaka yabo yokubeletha. Kukhona nethuba lokuthi ingane engakazalwa izovezwa emazingeni aphezulu e-phenylalanine. Lokhu kungaholela ezinkingeni ezahlukahlukene enganeni, kufaka phakathi:

• ukukhubazeka ngokwengqondo
• ukukhubazeka kwenhliziyo
• ukukhula okubambezelekile
• isisindo sokuzalwa esiphansi
• ikhanda elincane ngokungajwayelekile

Lezi zimpawu azibonakali ngokushesha enganeni esanda kuzalwa, kodwa udokotela uzokwenza izivivinyo ukuze ahlole izimpawu zanoma yikuphi ukukhathazeka kwezempilo ingane yakho engase ibe nakho.

Umbono wesikhathi eside wabantu abane-phenylketonuria

Umbono wesikhathi eside wabantu abane-PKU muhle kakhulu uma belandela uhlelo lokudla lwe-PKU eduze futhi ngemuva nje kokuzalwa. Lapho ukuxilongwa nokwelashwa kubambezeleka, ukulimala kobuchopho kungenzeka. Lokhu kungaholela ekukhubazekeni kwengqondo ngonyaka wokuqala wokuphila kwengane. I-PKU engalashwa nayo ekugcineni ingadala:

• intuthuko ebambezelekile
• izinkinga zokuziphatha nezingokomzwelo
• izinkinga zemizwa, njengokuthuthumela nokuquleka

Ngabe i-phenylketonuria ingavinjelwa?

I-PKU yisimo sezakhi zofuzo, ngakho-ke ayikwazi ukuvinjelwa. Kodwa-ke, isilingo se-enzyme singenziwa kubantu abahlela ukuba nezingane. Ukuhlolwa kwe-enzyme ukuhlolwa kwegazi okungacacisa ukuthi ngabe umuntu uphethe isakhi esingalungile esidala iPKU. Ukuhlolwa kungenziwa futhi ngesikhathi sokukhulelwa ukuze kuhlolwe izingane ezingakazalwa ze-PKU.

Uma une-PKU, ungavimba izimpawu ngokulandela uhlelo lwakho lokudla lwe-PKU kuyo yonke impilo yakho.