Yintoni iPhenylketonuria (PKU)? Iimpawu kunye noNyango

Phenylketonuria (PKU)yimeko yemfuza enqabileyo eyenza ukuba i-amino acid ebizwa ngokuba yiphenylalanine yakheke emzimbeni. Ii-amino acids ziibhloko zokwakha zeprotheyini. Phenylalanine Ifumaneka kuzo zonke iiprotheni kunye nezinye izimuncumuncu ezenziweyo.

I-Phenylalanine hydroxylase yi-enzyme esetyenziswa ngumzimba ukuguqula i-phenylalanine kwi-tyrosine, ekufuneka umzimba udale i-neurotransmitters ezifana ne-epinephrine, i-norepinephrine, kunye ne-dopamine.

Phenylketonuriakubangelwa sisiphene kumzila wemfuza onceda ukudala i-phenylalanine hydroxylase. Xa le enzyme ilahlekile, umzimba awukwazi ukuphula i-phenylalanine. Oku kubangela ukuba i-phenylalanine yakheke emzimbeni.

Iintsana zivavanyelwa i-PKU kamsinya nje emva kokuzalwa. Ukuxilongwa kwangoko kunye nonyango, iimpawu ze-phenylketonuria inokunciphisa kwaye ithintele ukonakala kwengqondo.

Ziziphi iimpawu zePhenylketonuria?

Iimpawu ze-PKU inokuqala ukusuka kobulali ukuya kobunzima. Olona hlobo luqatha lwesi sifo phenylketonuria zakudala yaziwa njenge. 

Usana olune-PKU yakudala lusenokubonakala luqhelekile kwiinyanga ezimbalwa zokuqala zobomi. Ngeli xesha umntwana phenyltonuria Ukuba akanyangwa, uya kuqala ukuvelisa ezi mpawu zilandelayo:

– ukuxhuzula

– ukungcangcazela

– Ukukhula okunganelanga

-Ukuxakeka

- Onokhwekhwe izifo zolusu ezifana

- Ivumba elibi lomoya, ulusu okanye umchamo

Phenylketonuria Ukuba ayifunyaniswanga ekuzalweni kwaye unyango aluqalwanga ngokukhawuleza, isifo sinokubangela:

-Umonakalo ongenakulungiseka wengqondo kunye nokukhubazeka kwengqondo kwiinyanga ezimbalwa zokuqala zobomi

- Iingxaki zokuziphatha kunye nokuxhuzula kubantwana abadala

Uhlobo oluncinci lwe-PKU lubizwa ngokuba yi-PKU eyahlukileyo okanye engeyiyo i-PKU hyperphenylalaninemia. Oku kwenzeka xa umzimba wosana unephenylalanine eninzi kakhulu.

Iintsana ezinolu hlobo lwesi sifo zinokuba neempawu ezincinci kuphela, kodwa kuya kufuneka zilandele ukutya okukhethekileyo ukuphepha ukukhubazeka kwengqondo.

Emva kokuba kuqaliswe ukutya okuthile kunye nolunye unyango oluyimfuneko, iimpawu ziqalisa ukudamba. Phenylketonuria ukutyaAbantu abalawula i-rheumatoid arthritis ngokuqhelekileyo ababonisi naziphi na iimpawu.

Yintoni ebangela iPhenylketonuria?

Isifo sePhenylketonuriayimeko efunyanwa njengelifa ebangelwa sisiphene kumzila wemfuza we-PAH. I-PAH gene inceda ukudala i-phenylalanine hydroxylase, i-enzyme ejongene nokuqhekeka kwe-phenylalanine.

Ukwakheka okuyingozi kwephenylalanine kunokwenzeka xa umntu etya ukutya okuneprotheyini ephezulu njengamaqanda kunye nenyama.

Ukuze umntwana afumane isifo, bobabini abazali kufuneka babe nohlobo oluneziphene lwe-PAH. Ukuba umzali omnye kuphela udlula kule gene, umntwana akayi kuba naziphi na iimpawu, kodwa uya kuba ngumthwali we-gene.

Iindidi zePhenylketonuria zezi zilandelayo;

Ubunzima be-phenylketonuria buyahluka ngokuxhomekeke kuhlobo.

I-PKU yakudala

Olona hlobo luqatha lwesi sifo lubizwa ngokuba yiPKU yakudala. I-enzyme efunekayo ukuguqula i-phenylalanine ilahlekile okanye iyancipha kakhulu, okukhokelela kumazinga aphezulu e-phenylalanine kunye nomonakalo omkhulu wobuchopho.

Iintlobo ezingaphantsi ezinzima ze-PKU

Kwiifom ezincinci okanye ezilinganiselweyo, i-enzyme igcina eminye yemisebenzi yayo, ngoko ke amanqanaba e-phenylalanine awaphezulu kakhulu, ukunciphisa umngcipheko womonakalo omkhulu wengqondo.

Nangona kunjalo, uninzi lwabantwana abanengxaki bafumana kunzima ukukhusela ukukhubazeka kwengqondo kunye nezinye iingxaki. phenylketonuria ukutya kufuneka ilandele

Ukukhulelwa kunye nePhenylketonuria

Phenylketonuria Abasetyhini abakhulelweyo nabakhulelwayo basengozini yolunye uhlobo lwemeko ebizwa ngokuba yi-PKU yoomama. 

abafazi ngaphambi nangexesha lokukhulelwa phenylketonuria ukutyaUkuba azilandelwa ngokufanelekileyo, amanqanaba egazi e-phenylalanine anokwenyuka kwaye enze ingozi kwi-fetus ekhulayo okanye abangele ukuphuma kwesisu.

Nditsho nabasetyhini abaneefom ezincinci ze-PKU, phenylketonuria ukutyaUkungathobeli kusenokubeka abantwana babo abangekazalwa emngciphekweni.

Iintsana ezizalwa ngoomama ezinamaqondo aphezulu ephenylalanine zikholisa ukubakho isifo phenylketonuriaAbanalifa. Nangona kunjalo, ukuba inqanaba legazi likamama le-phenylalanine liphezulu ngexesha lokukhulelwa, kunokuba neziphumo ezibi kakhulu. Iingxaki ekuzalweni ziquka:

– Ukuzalwa kobunzima obuphantsi

– Uphuhliso olulibazisekileyo

- ukungaqhelekanga kobuso

– Intloko encinci ngokungaqhelekanga

-Iziphene zentliziyo kunye nezinye iingxaki zentliziyo

- ukukhubazeka kwengqondo

– Iingxaki zokuziphatha 

Zeziphi izinto eziseMngciphekweni weSifo sePhenylketonuria?

Imiba yomngcipheko wokufumana ilifa le-phenylketonuria zezi:

Bobabini abazali banejini enesiphene ebangela iPKU

Abazali ababini kufuneka badlulisele ikopi enye yejini enesiphene ukuze umntwana wabo aphuhlise le meko.

babe nohlanga oluthile

Isifo sePhenylketonuriaI-gene defect eyenza i-rheumatoid arthritis iyahluka ngokobuhlanga kwaye ayiqhelekanga kubantu base-Afrika-baseMelika kunakwamanye amaqela eentlanga.

Phenylketonuria izifo iingxaki

enganyangwa isifo phenylketonuriakunokukhokelela kwiingxaki kwiintsana, abantwana, kunye nabantu abadala abanale ngxaki.

kunye phenylketonuria Xa oomama benamanqanaba aphezulu e-phenylalanine yegazi ngexesha lokukhulelwa, iziphene zokuzalwa komntwana okanye ukuphuphuma kwesisu kunokwenzeka.

enganyangwa isifo phenylketonuria kunokukhokelela ku:

-Umonakalo ongenakulungiseka wengqondo kunye nokukhubazeka kwengqondo okubalulekileyo ukuqala kwiinyanga ezimbalwa zokuqala zobomi

Iingxaki ze-neurological ezifana nokuxhuzula kunye nokungcangcazela

- Iingxaki zokuziphatha, iimvakalelo kunye nezentlalo kubantwana abadala kunye nabantu abadala

– Imiba engundoqo yezempilo kunye nophuhliso

Uvavanyo lwePhenylketonuria

Uvavanyo lwePhenylketonuria (PKU).

Ugqirha uthatha amaconsi ambalwa egazi kwisithende somntwana ukuvavanya i-PKU kunye nezinye izifo zofuzo. Uvavanyo lwe-screening lwenziwa xa umntwana enosuku olunye ukuya kwezimbini ubudala kwaye esesibhedlele.

Uvavanyo olongezelelweyo lunokwenziwa ukuqinisekisa iziphumo zokuqala. Olu vavanyo lujonga ubukho be-PAH yokuguqula imfuza ebangela i-PKU. Olu vavanyo lukholisa ukwenziwa kwiiveki ezintandathu emva kokuzalwa.

Ukuba umntwana okanye umntu omdala ubonisa iimpawu ze-PKU, ezifana nokulibaziseka kophuhliso, ugqirha uya kuyalela uvavanyo lwegazi ukuqinisekisa ukuxilongwa. Olu vavanyo lubandakanya ukuthatha isampuli yegazi kunye nokuhlalutya ubukho be-enzyme efunekayo ukuphula i-phenylalanine.

Phenylketonuria Unyango

Phenylketonuria Abantu abanesifo seswekile banokuthomalalisa iimpawu kwaye bathintele iingxaki ngokulandela ukutya okukhethekileyo kunye nokusela amayeza.

Phenylketonuria Ukutya

Indlela ephambili yokunyanga i-PKU kukutya okukhethekileyo okunciphisa ukutya okuqulethe i-phenylalanine. Iintsana ezine-PKU zinokuncanciswa.

Kufuneka kwakhona basebenzise ifomula ekhethekileyo, eyaziwa ngokuba yi-Lofenalac. Xa umntwana sele ekhulile ngokwaneleyo ukuba angatya ukutya okuqinileyo, kubalulekile ukuba angavumeli ukuba atye ukutya okuneprotheyini eninzi. Oku kutya kuku:

- Iqanda

- Itshizi

-Hazelnut

- Ubisi

- Iimbotyi

- Inkukhu

- Yenkomo

- Intlanzi

Kubalulekile ukuqaphela ukuba izicwangciso zokutya ze-PKU ziyahluka kumntu nomntu. Abantu abane-PKU kufuneka basebenze ngokusondeleyo nogqirha okanye i-dietitian ukuqinisekisa ukulingana okufanelekileyo kwezondlo ngelixa benciphisa ukuthathwa kwabo kwe-phenylalanine.

Kananjalo kufuneka babeke iliso kumanqanaba e-phenylalanine ngokugcina iirekhodi zesixa se-phenylalanine ekutyeni abakutyayo imini yonke. 

iziyobisi

Unyango lwe-PKU I-Sapropterin (Kuvan) isetyenziselwa I-Sapropterin inceda amanqanaba aphantsi e-phenylalanine.

Eli liyeza kufuneka lisetyenziswe ngokubambisana nesicwangciso esithile sokutya se-PKU. Nangona kunjalo, ayisebenzi kuye wonke umntu one-PKU. Isebenza ngakumbi kubantwana abaneemeko ezincinci ze-PKU.

Kufuneka ubone nini ugqirha?

Kwezi meko, kuyimfuneko ukufuna uncedo lwezonyango:

abasanda kuzalwa

Ukuba iimvavanyo zesiqhelo zokuhlola usana olusanda kuzalwa zibonisa ukuba umntwana usenokuba ne-PKU, ugqirha womntwana uya kufuna ukuqalisa unyango lokutya ngokukhawuleza ukuthintela iingxaki zexesha elide.

abafazi abakwiminyaka yokuzala

Kubaluleke kakhulu kubasetyhini abanembali ye-PKU ukubonana nogqirha ngaphambi nangexesha lokukhulelwa kwaye bagcine ukutya kwe-PKU ukunciphisa umngcipheko wokuba amanqanaba aphezulu egazi e-phenylalanine angonakalisa usana lwabo olungekazalwa.

Abantu abadala

Abantu abane-PKU bayaqhubeka befumana ukhathalelo kubo bonke ubomi babo. Abantu abadala abane-PKU abayeka ukutya kwe-PKU ngexesha lokufikisa kufuneka babonane nogqirha.

Ukubuyela ekutyeni kunokuphucula ukusebenza kwengqondo kunye nokuziphatha kwaye kucothise umonakalo kwinkqubo ye-nervous central enokuthi ibangele amanqanaba aphezulu e-phenylalanine.

Abo bane phenylketonuria;

Izigulana zePhenylketonuriakungekudala emva kokuzalwa phenylketonuria isondlo Ukuba balandela isicwangciso sakhe ngokusondeleyo, akufanele kubekho ingxaki.

Xa ukuxilongwa kunye nokunyangwa kulibaziseka, umonakalo wengqondo ungenzeka. Ukukhubazeka kwengqondo kunokwenzeka. I-PKU enganyangwanga inokubangela:

– Uphuhliso olulibazisekileyo

-Iingxaki zokuziphatha kunye neemvakalelo

Iingxaki ze-neurological ezifana nokungcangcazela kunye nokuxhuzula

Ngaba iPhenylketonuria inokuthintelwa?

I-Phenylketonuria yimeko yofuzo, ngoko ke ayinakuphetshwa. Nangona kunjalo, uvavanyo lwe-enzyme lunokwenziwa kubantu abaceba ukuba nabantwana.

Olu vavanyo lwe-enzyme luvavanyo lwegazi olunokugqiba ukuba umntu uphethe i-gene enesiphene ebangela i-PKU. Uvavanyo lunokwenziwa ngexesha lokukhulelwa ukuze kuhlolwe iintsana ezingekazalwa nge-PKU.

Phenylketonuria Ukuba wenza, unokuthintela iimpawu ngokulandela isicwangciso sokutya esiqhelekileyo kubo bonke ubomi bakho.