Yintoni i-phenylketonuria, iimpawu eziphambili kunye nendlela yokwenza unyango

Umxholo

• Iimpawu eziphambili
• Unyango lwenziwa njani
• Ngaba lukhona unyango lwephenylketonuria?
• Uxilongo lwenziwa njani

I-Phenylketonuria sisifo esinqabileyo semfuza esibonakaliswa bubukho kuguquko olunoxanduva lokutshintsha umsebenzi we-enzyme emzimbeni onoxanduva lokuguqula i-amino acid phenylalanine ibe yi-tyrosine, ekhokelela ekufumaneni i-phenylalanine egazini kwaye ephezulu Ukugxilwa kuyityhefu kumzimba, onokubangela ukukhubazeka kwengqondo kunye nokuxhuzula, umzekelo.

Esi sifo semfuza sinomlinganiso ophindaphindwayo we-autosomal, oko kukuthi, ukuze umntwana azalwe kunye nolu tshintsho, bobabini abazali kufuneka okungenani babe ngabathwali benguquko. Ukuchongwa kwe-phenylketonuria kungenziwa kanye emva kokuzalwa ngovavanyo lwesithende, kwaye ke kunokwenzeka ukuseka unyango kwangoko.

I-Phenylketonuria ayinyangeki, nangona kunjalo unyango lwayo lwenziwa ngokutya, kwaye kufanelekile ukuthintela ukutya ukutya okutyebileyo kwi-phenylalanine, ezinje ngeeshizi kunye nenyama, umzekelo.

Iimpawu eziphambili

Iintsana ezine-phenylketonuria ekuqaleni azinazimpawu, kodwa iimpawu zibonakala kwiinyanga ezimbalwa kamva, ezona ziphambili zezi:

• Amanxeba esikhumba afana nerhashalala;
• Ivumba elibi, uphawu lokuqokelelwa kwe phenylalanine egazini;
• Isicaphucaphu nokugabha;
• Ukuziphatha kakubi
• Ukusebenza kakhulu;
• Ukudodobala kwengqondo, kuhlala kunzima kwaye kungenakuguqulwa;
• Ukuxhuzula;
• Iingxaki zokuziphatha nezentlalo.

Ezi mpawu zihlala zilawulwa kukutya okwaneleyo kunye nokutya okuncinci kwimithombo ye-phenylalanine. Ukongeza, kubalulekile ukuba umntu one-phenylketonuria abekwe iliso rhoqo ngugqirha wabantwana kunye nesondlo ukusukela ekuncanciseni ukuze kungabikho ngxaki zinkulu kwaye ukukhula komntwana kungaphazanyiswa.

Unyango lwenziwa njani

Eyona njongo iphambili yonyango lwe-phenylketonuria kukunciphisa inani le-phenylalanine egazini kwaye, ke, kuhlala kubonisiwe ukuba kulandelwe ukutya okuphantsi kukutya okune-phenylalanine, njengokutya kwemvelaphi yezilwanyana, umzekelo.

Kubalulekile ukuba olu tshintsho kwindlela otya ngayo lukhokelwe yingcali yesondlo, kuba kunokuba yimfuneko ukongeza ezinye iivithamini okanye iiminerali ezingenakufumaneka kukutya okuqhelekileyo. Jonga ukuba ukutya kufanele ukuba njani kwimeko ye-phenylketonuria.

Umfazi one-phenylketonuria ofuna ukukhulelwa kufuneka akhokelwe ngugqirha obelekisayo kunye nesondlo malunga nemingcipheko yokwandisa uxinzelelo lwe-phenylalanine egazini. Ke ngoko, kubalulekile ukuba kuvavanywe ngugqirha ngamaxesha athile, ukongeza ekulandeleni ukutya okufanelekileyo kwesi sifo kwaye, mhlawumbi, ukongeza ezinye izondlo ukuze umama nomntwana babe sempilweni.

Kukwacetyiswa ukuba umntwana one-phenylketonuria abekwe esweni ebomini bakhe kwaye kuthintelwe rhoqo ukuthintela iingxaki, njengokuphazamiseka kwenkqubo yemithambo-luvo, umzekelo. Funda ngendlela yokunyamekela umntwana wakho nge-phenylketonuria.

Ngaba lukhona unyango lwephenylketonuria?

I-Phenylketonuria ayinonyango kwaye, ke ngoko, unyango lwenziwa kuphela kulawulo lokutya. Umonakalo kunye nokuphazamiseka kwengqondo okunokwenzeka ngokusetyenziswa kokutya okutyebileyo kwi-phenylalanine akunakuguqulwa kubantu abangenayo i-enzyme okanye i-enzyme engazinzanga okanye engasebenziyo ngokubhekisele kuguquko lwe-phenylalanine ukuya kwi-tyrosine. Umonakalo onjalo, nangona kunjalo, unokuthintelwa ngokulula ngokutya.

Uxilongo lwenziwa njani

Ukuxilongwa kwe-phenylketonuria kwenziwa kungekudala emva kokuzalwa kusetyenziswa uvavanyo lwesithende, ekufuneka lwenziwe phakathi kweeyure ezingama-48 ukuya kwezingama-72 zobomi bosana. Olu vavanyo luyakwazi ukufumanisa kungekuphela i-phenylketonuria emntwaneni, kodwa kunye ne-sickle cell anemia kunye ne-cystic fibrosis, umzekelo. Fumanisa ukuba zeziphi izifo ezichongiweyo kuvavanyo lwesithende.

Abantwana abangakhange bafunyaniswe benesithende kuvavanyo lwesithende banokuthi bafumane uxilongo olwenziwe ziimvavanyo zaselebhu ezinenjongo yokuvavanya isixa se-phenylalanine egazini kwaye, kwimeko yoxinaniso oluphezulu kakhulu, uvavanyo lwemfuzo lunokwenziwa ukuchonga isifo ezinxulumene nesifo.

Ukusukela okokuchongwa kwenguquko kunye noxinaniso lwe phenylalanine egazini, ugqirha unakho ukujonga inqanaba lesi sifo kunye nobunzima beengxaki. Ukongeza, olu lwazi lubalulekile kwincutshe yesondlo ukubonisa isicwangciso sokutya esifanelekileyo kwimeko yomntu.

Kubalulekile ukuba idosi ye-phenylalanine egazini yenziwa rhoqo. Kwimeko yeentsana, kubalulekile ukuba kwenziwe iveki nganye de umntwana abe neminyaka eli-1 ubudala, ngelixa abantwana abaphakathi kweminyaka emi-2 ukuya kwe-6 ubudala kufuneka kwenziwe uvavanyo rhoqo kwiiveki ezimbini kwaye kubantwana abaneminyaka esi-7 ubudala, ngenyanga.