Yini i-phenylketonuria, izimpawu eziyinhloko nokuthi ukwelashwa kwenziwa kanjani

-Delile

• Izimpawu eziyinhloko
• Yelashwa kanjani
• Ingabe likhona ikhambi le-phenylketonuria?
• Ukuxilongwa kwenziwa kanjani

I-Phenylketonuria isifo esingajwayelekile sezakhi zofuzo esibonakala ngokuba khona koguquko olubhekele ukuguqula ukusebenza kwe-enzyme emzimbeni obhekele ukuguqulwa kwe-amino acid phenylalanine ibe yi-tyrosine, okuholela ekuqongeleleni kwe-phenylalanine egazini futhi ephezulu ukugxila kuyingozi emzimbeni, okungadala ukukhubazeka kwengqondo nokuquleka, ngokwesibonelo.

Lesi sifo sofuzo sinomlingiswa we-autosomal recessive, okungukuthi, ukuze ingane izalwe ngalolu shintsho, bobabili abazali kufanele okungenani babe ngabathwali bokuguquka. Ukuxilongwa kwe-phenylketonuria kungenziwa ngemuva nje kokuzalwa ngesithende sokuhlolwa kwesithende, futhi kungenzeka ukuthi usheshe ukwelashwa.

I-Phenylketonuria ayinawo umuthi, noma kunjalo ukwelashwa kwayo kwenziwa ngokudla, futhi kuyadingeka ukugwema ukusetshenziswa kokudla okunothe ku-phenylalanine, njengoshizi nenyama, ngokwesibonelo.

Izimpawu eziyinhloko

Izingane ezisanda kuzalwa ezine-phenylketonuria ekuqaleni azinazo izimpawu, kepha izimpawu zivela ezinyangeni ezimbalwa kamuva, okuyizona eziyinhloko:

• Amanxeba esikhumba afana ne-eczema;
• Iphunga elingathandeki, isici sokuqongelelwa kwe-phenylalanine egazini;
• Isicanucanu nokuhlanza;
• Ukuziphatha ngolaka;
• Ukungasebenzi kahle;
• Ukuwohloka kwengqondo, imvamisa kubi kakhulu futhi akunakuhlehliswa;
• Ukudlikizela;
• Izinkinga zokuziphatha nezenhlalo.

Lezi zimpawu zivame ukulawulwa ukudla okwanele futhi ziphansi kokudla komthombo we-phenylalanine. Ngaphezu kwalokho, kubalulekile ukuthi umuntu one-phenylketonuria abhekwe njalo ngudokotela wezingane kanye nochwepheshe wezokudla kusukela ekunceliseni ibele ukuze kungabikho zinkinga ezinzima kakhulu futhi ukukhula kwengane kungaphazanyiswa.

Yelashwa kanjani

Inhloso enkulu yokwelashwa kwe-phenylketonuria ukwehlisa inani le-phenylalanine egazini, ngakho-ke, kuvame ukukhonjiswa ukulandela ukudla okuphansi kokudla okuqukethe i-phenylalanine, njengokudla kwemvelaphi yezilwane, ngokwesibonelo.

Kubalulekile ukuthi lezi zinguquko ekudleni ziqondiswe yisazi sokudla, ngoba kungadingeka ukwengeza amanye amavithamini noma amaminerali angatholakali ekudleni okujwayelekile. Bona ukuthi ukudla kufanele kube kanjani uma kwenzeka i-phenylketonuria.

Owesifazane one-phenylketonuria ofuna ukukhulelwa kufanele athole ukuholwa ngudokotela obelethisayo kanye nochwepheshe wezokudla ngokuqondene nezingozi zokwanda kokuhlushwa kwe-phenylalanine egazini. Ngakho-ke, kubalulekile ukuthi ihlolwe ngudokotela ngezikhathi ezithile, ngaphezu kokulandela ukudla okufanele kwesifo futhi, mhlawumbe, ukwengeza izakhi ezithile zomzimba ukuze umama nengane baphile kahle.

Kunconywa nokuthi ingane ene-phenylketonuria ibhekwe impilo yayo yonke futhi ivikeleke njalo ezinkingeni, njengokukhubazeka kohlelo lwezinzwa, isibonelo. Funda ukuthi ungayinakekela kanjani ingane yakho nge-phenylketonuria.

Ingabe likhona ikhambi le-phenylketonuria?

I-Phenylketonuria ayinalo ikhambi, ngakho-ke, ukwelashwa kwenziwa kuphela ngokulawulwa kokudla. Umonakalo nokukhubazeka kobuhlakani okungenzeka ngokusetshenziswa kokudla okune-phenylalanine akunakulungiseka kubantu abangenayo i-enzyme noma abane-enzyme engazinzile noma engasebenzi kahle maqondana nokuguqulwa kwe-phenylalanine kuya ku-tyrosine. Nokho, umonakalo onjalo ungagwenywa kalula ngokudla.

Ukuxilongwa kwenziwa kanjani

Ukuxilongwa kwe-phenylketonuria kwenziwa ngemuva nje kokuzalwa ngokusebenzisa ukuhlolwa kwesithende, okumele kwenziwe phakathi kwamahora okuqala angama-48 kuya kwangu-72 empilo yengane. Lokhu kuhlolwa akukwazi ukuxilonga hhayi kuphela i-phenylketonuria enganeni, kodwa futhi ne-sickle cell anemia kanye ne-cystic fibrosis, isibonelo. Thola ukuthi yiziphi izifo ezikhonjwe ukuhlolwa kwesithende.

Izingane ezingatholakali ukuthi zinesithende sokuhlatshwa isithende zingathola ukuxilongwa okwenziwe izivivinyo zaselebhu inhloso yazo ukuhlola inani le-phenylalanine egazini futhi, esimweni sokuhlushwa okuphezulu kakhulu, kungenziwa ukuhlolwa kofuzo ukuthola ukuthi Ukuguquka kwesifo okuhlobene nezifo.

Kusukela lapho kutholakala ukuguquka kwegazi nokuhlungwa kwe-phenylalanine egazini, kungenzeka ukuthi udokotela ahlole isigaba sesifo namathuba okuba nezinkinga. Ngaphezu kwalokho, lolu lwazi lubalulekile kwisazi sokudla okunempilo ukukhombisa uhlelo lokudla olufanele kakhulu esimweni somuntu.

Kubalulekile ukuthi umthamo we-phenylalanine egazini wenziwe njalo. Endabeni yezinsana, kubalulekile ukuthi kwenziwe njalo ngesonto kuze kube yilapho ingane iba nonyaka owodwa ubudala, kanti ezinganeni ezineminyaka ephakathi kwemibili kuya kwengu-6 ukuhlolwa kumele kwenziwe njalo emavikini amabili futhi ezinganeni ezisukela eminyakeni engu-7 ubudala, njalo ngenyanga.