Iyini i-Phenylketonuria (PKU)? Izimpawu Nokwelashwa

I-Phenylketonuria (PKU)kuyisimo sofuzo esingavamile esenza ukuba i-amino acid ebizwa ngokuthi i-phenylalanine yakheke emzimbeni. Ama-amino acid ayizingqimba zokwakha amaprotheni. Phenylalanine Itholakala kuwo wonke amaprotheni nakwamanye ama-sweeteners okwenziwa.

I-Phenylalanine hydroxylase iyi-enzyme esetshenziswa umzimba ukuguqula i-phenylalanine ibe yi-tyrosine, umzimba oyidingayo ukuze wakhe ama-neurotransmitters afana ne-epinephrine, i-norepinephrine, ne-dopamine.

Phenylketonuriakubangelwa ukukhubazeka kwesakhi sofuzo esiza ekwakheni i-phenylalanine hydroxylase. Uma le enzyme ingekho, umzimba awukwazi ukuphula i-phenylalanine. Lokhu kubangela ukuthi i-phenylalanine yakheke emzimbeni.

Izingane zihlolelwa i-PKU ngemva nje kokuzalwa. Ukuxilongwa kusenesikhathi nokwelashwa, izimpawu ze-phenylketonuria ingadambisa futhi ivimbele ukulimala kobuchopho.

Yiziphi Izimpawu Ze-Phenylketonuria?

Izimpawu ze-PKU ingasukela kokumnene kuye kokunzima. Uhlobo olubi kakhulu lwalesi sifo i-phenylketonuria ye-classical waziwa ngo. 

Ingane ene-PKU yakudala ingase ibonakale ivamile ezinyangeni ezimbalwa zokuqala zokuphila. Ngalesi sikhathi umntwana i-phenyltonuria Uma ingelashwa, izoqala ukuba nezimpawu ezilandelayo:

– ukuquleka

– ukuthuthumela

– Ukukhula okunganele

-Ukungasebenzi kahle

- I-Eczema izifo zesikhumba ezifana

- Iphunga elibi lokuphefumula, isikhumba noma umchamo

Phenylketonuria Uma ingatholakali ngesikhathi sokuzalwa futhi ukwelashwa kungaqalwa ngokushesha, lesi sifo singabangela:

- Ukulimala kobuchopho okungenakulungiseka kanye nokukhubazeka kwengqondo ezinyangeni ezimbalwa zokuqala zokuphila

- Izinkinga zokuziphatha kanye nokuquleka ezinganeni ezindala

Uhlobo olubi kancane lwe-PKU lubizwa ngokuthi i-PKU ehlukile noma i-hyperphenylalaninemia engeyona ye-PKU. Lokhu kwenzeka lapho umzimba womntwana unephenylalanine eningi kakhulu.

Izingane ezinalolu hlobo lwesifo zingase zibe nezimpawu ezincane kuphela, kodwa kuzodingeka zilandele ukudla okukhethekile ukuze zigweme ukukhubazeka kwengqondo.

Lapho ukudla okuthile kanye nezinye izindlela zokwelapha ezidingekayo seziqalile, izimpawu ziqala ukuncipha. I-Phenylketonuria yokudlaAbantu abaphatha i-rheumatoid arthritis ngendlela efanele ngokuvamile ababonisi zimpawu.

Yini Ebangela Phenylketonuria?

Isifo se-Phenylketonuriayisimo esizuzwe njengefa esibangelwa ukukhubazeka esakhini sofuzo se-PAH. Isakhi sofuzo se-PAH sisiza ekwakheni i-phenylalanine hydroxylase, i-enzyme ebangela ukuwohloka kwe-phenylalanine.

Ukunqwabelana okuyingozi kwe-phenylalanine kungenzeka lapho umuntu edla ukudla okunamaprotheni amaningi njengamaqanda nenyama.

Ukuze ingane izuze njengefa lesi sifo, bobabili abazali kufanele babe nenguqulo enesici yofuzo lwe-PAH. Uma umzali oyedwa kuphela edlula lesi sakhi sofuzo, ingane ngeke ibe nezimpawu, kodwa izoba umthwali wofuzo.

Izinhlobo ze-Phenylketonuria zimi kanje;

Ubunzima be-phenylketonuria buyahlukahluka kuye ngohlobo.

I-PKU yakudala

Uhlobo olubi kakhulu lwalesi sifo lubizwa nge-PKU yakudala. I-enzyme edingekayo ukuze kuguqulwe i-phenylalanine ayikho noma inciphe kakhulu, okuholela emazingeni aphezulu e-phenylalanine kanye nokulimala okukhulu kwengqondo.

Izinhlobo ezinzima ze-PKU

Ngamafomu athambile noma amaphakathi, i-enzyme igcina eminye yemisebenzi yayo, ngakho-ke amazinga e-phenylalanine awaphezulu kangako, anciphisa ingozi yokulimala okukhulu kwengqondo.

Kodwa-ke, izingane eziningi ezinalesi sifo zikuthola kunzima ukuvimbela ukukhubazeka kwengqondo nezinye izinkinga. i-phenylketonuria yokudla kufanele balandele

Ukukhulelwa kanye ne-Phenylketonuria

Phenylketonuria Abesifazane abakhulelwe futhi abakhulelwe basengozini yolunye uhlobo lwesimo olubizwa ngokuthi i-PKU yomama. 

abesifazane ngaphambi nangesikhathi sokukhulelwa i-phenylketonuria yokudlaUma zingalandelwa kahle, amazinga e-phenylalanine egazini angase akhuphuke futhi alimaze umbungu osakhulayo noma abangele ukuphuphuma kwesisu.

Ngisho nabesifazane abanezinhlobo ezinzima kakhulu ze-PKU, i-phenylketonuria yokudlaUkwehluleka ukulalela kungase kubeke izingane zabo ezingakazalwa engozini.

Izingane ezizalwa omama abanamazinga aphezulu e-phenylalanine ngokuvamile isifo se-phenylketonuriaAbanalo ifa. Nokho, uma izinga likamama le-phenylalanine liphezulu ngesikhathi sokukhulelwa, kungaba nemiphumela emibi kakhulu. Izinkinga ngesikhathi sokuzalwa zihlanganisa:

– Isisindo sokuzalwa siphansi

– Intuthuko ebambezelekile

– Ukungajwayelekile kobuso

– Ikhanda elincane ngendlela engavamile

- Ukukhubazeka kwenhliziyo nezinye izinkinga zenhliziyo

- ukukhubazeka kwengqondo

- Izinkinga zokuziphatha 

Yiziphi Izingozi Zokugula kwe-Phenylketonuria?

Izinto eziyingozi zokuthola i-phenylketonuria yizi:

Bobabili abazali banesakhi sofuzo esinesici esibangela i-PKU

Abazali ababili kufanele badlulisele ikhophi eyodwa yofuzo olungasebenzi ukuze ingane yabo ibe nalesi simo.

abe nohlanga oluthile

Isifo se-PhenylketonuriaIsici sofuzo esidala isifo samathambo siyahlukahluka ngokweqembu futhi akuvamile kubantu base-Afrika-baseMelika kunakwezinye izinhlanga.

Izinkinga ze-Phenylketonuria

engelashiwe isifo se-phenylketonuriakungaholela ezinkingeni ezinsaneni, ezinganeni nakubantu abadala abanalesi sifo.

nge-phenylketonuria Uma omama benamazinga aphezulu e-phenylalanine egazi ngesikhathi sokukhulelwa, ukukhubazeka kokuzalwa kwengane noma ukuphuphuma kwesisu kungase kwenzeke.

engelashiwe isifo se-phenylketonuria kungaholela kokuthi:

- Ukulimala kobuchopho okungenakulungiseka kanye nokukhubazeka okuphawulekayo kwengqondo okuqala ezinyangeni ezimbalwa zokuqala zokuphila

Izinkinga zemizwa njengokuquleka nokundindizela

- Izinkinga zokuziphatha, zemizwa nezenhlalo ezinganeni ezindala nakubantu abadala

- Izinkinga ezinkulu zezempilo nentuthuko

Ukuhlolwa kwe-Phenylketonuria

Ukuhlolwa kwe-Phenylketonuria (PKU).

Udokotela uthatha amaconsi ambalwa egazi esithendeni somntwana ukuze ahlole i-PKU nezinye izifo zofuzo. Ukuhlolwa kwe-screening kwenziwa lapho ingane inosuku olulodwa kuya kwezimbili ubudala futhi isesibhedlela.

Ukuhlolwa okwengeziwe kungenziwa ukuze kuqinisekiswe imiphumela yokuqala. Lokhu kuhlola kubheka ubukhona bokuguqulwa kofuzo lwe-PAH olubangela i-PKU. Lokhu kuhlola kuvamise ukwenziwa emasontweni ayisithupha ngemva kokuzalwa.

Uma ingane noma umuntu omdala ebonisa izimpawu ze-PKU, njengokulibaziseka kwentuthuko, udokotela uzoyala ukuhlolwa kwegazi ukuze aqinisekise ukuxilongwa. Lokhu kuhlola kuhilela ukuthatha isampula legazi futhi kulihlaziye ukuze kutholakale ukuba khona kwe-enzyme edingekayo ukuze kuhlinzwe i-phenylalanine.

Ukwelashwa kwe-Phenylketonuria

Phenylketonuria Abantu abanesifo sikashukela bangakwazi ukukhulula izimpawu futhi bavimbele izinkinga ngokulandela ukudla okukhethekile nokuthatha imithi.

I-Phenylketonuria Diet

Indlela eyinhloko yokwelapha i-PKU ukudla okukhethekile okukhawulela ukudla okuqukethe i-phenylalanine. Izingane ezine-PKU zinganceliswa ibele.

Kufanele futhi basebenzise ifomula ekhethekile, ngokuvamile eyaziwa ngokuthi i-Lofenalac. Lapho ingane isikhule ngokwanele ukuba idle ukudla okuqinile, kubalulekile ukuyigwema ukuba idle ukudla okunamaphrotheni amaningi. Lokhu kudla yilokhu:

- Iqanda

- Ushizi

- I-Hazelnut

- Ubisi

- Ubhontshisi

- Inyama yenkukhu

- Inyama yenkomo

- Izinhlanzi

Kubalulekile ukuqaphela ukuthi izinhlelo zokudla ze-PKU ziyahlukahluka kumuntu nomuntu. Abantu abane-PKU badinga ukusebenzisana eduze nodokotela noma i-dietitian ukuze baqinisekise ibhalansi efanele yemisoco ngenkathi benciphisa ukudla kwabo i-phenylalanine.

Kufanele futhi baqaphe amazinga e-phenylalanine ngokugcina amarekhodi yenani le-phenylalanine ekudleni abakudla usuku lonke. 

izidakamizwa

Ukwelashwa kwe-PKU I-Sapropterin (Kuvan) isetshenziselwa I-Sapropterin isiza ukunciphisa amazinga e-phenylalanine.

Lo muthi kufanele usetshenziswe ngokuhambisana nohlelo oluthile lokudla lwe-PKU. Nokho, ayisebenzi kuwo wonke umuntu one-PKU. Isebenza kakhulu ezinganeni ezinezimo ezincane ze-PKU.

Kufanele ubone nini udokotela?

Kulezi zimo, kuyadingeka ukufuna usizo lwezokwelapha:

abasanda kuzalwa

Uma ukuhlolwa okujwayelekile kosana olusanda kuzalwa kubonisa ukuthi ingane ingase ibe ne-PKU, udokotela wengane uzofuna ukuqala ukwelashwa kokudla ngokushesha ukuze avimbele izinkinga zesikhathi eside.

abesifazane abaneminyaka yobudala

Kubaluleke kakhulu kwabesifazane abanomlando we-PKU ukubonana nodokotela ngaphambi nangesikhathi sokukhulelwa futhi balondoloze ukudla kwe-PKU ukuze banciphise ingozi yokuthi amazinga aphezulu egazi e-phenylalanine azolimaza ingane yabo engakazalwa.

Abantu abadala

Abantu abane-PKU bayaqhubeka nokuthola ukunakekelwa kukho konke ukuphila kwabo. Abantu abadala abane-PKU abamisa ukudla kwe-PKU ngesikhathi sokuthomba kufanele babonane nodokotela.

Ukubuyela ekudleni kungathuthukisa ukusebenza kwengqondo nokuziphatha futhi kubambezele umonakalo ohlelweni lwezinzwa oluphakathi olungabangelwa amazinga aphezulu e-phenylalanine.

Labo abane-phenylketonuria;

Phenylketonuria izigulingokushesha ngemva kokuzalwa i-phenylketonuria yokudla Uma belulandela kahle uhlelo lwakhe akumele kube khona inkinga.

Uma ukuxilongwa nokwelashwa kubambezeleka, ukulimala kwengqondo kungenzeka. Ukukhubazeka kwengqondo kungase kwenzeke. I-PKU engalashwa ingaholela ku:

– Intuthuko ebambezelekile

- Izinkinga zokuziphatha nezomzwelo

Izinkinga zemizwa njengokundindizela nokuquleka

Ingabe I-Phenylketonuria Ingavinjelwa?

I-Phenylketonuria yisimo sofuzo, ngakho-ke ayinakugwenywa. Kodwa-ke, ukuhlolwa kwe-enzyme kungenziwa kubantu abahlela ukuba nezingane.

Lokhu kuhlolwa kwe-enzyme ukuhlola igazi okunganquma ukuthi umuntu uphethe isakhi sofuzo esinesici esibangela i-PKU. Ukuhlolwa kungenziwa futhi ngesikhathi sokukhulelwa ukuze kuhlolwe izingane ezingakazalwa i-PKU.

Phenylketonuria Uma wenza kanjalo, ungavimbela izimpawu ngokulandela uhlelo lokudla oluvamile kukho konke ukuphila kwakho.