Ngamanye amaxesha zonke izicwangciso eziqaqambileyo kunye nethemba elincinci kubazali abancinci banokugqithiselwa ngaphandle. Ngokomzekelo, ukuxilongwa okubi kakhulu yi-phenylketonuria.
Iimbangela ze phenylketonuria kubantwana
I-Phenylketonuria isifo sofuzo, okubaluleke kakhulu ukuphula umthetho i-amino acid metabolism, oko kukuthi, ukungabikho kwe-phenylalanine hydroxylase enzyme, enoxanduva lokutshintshiselana kwe-phenylalanine, iprotheni efumaneka kwiindawo ezininzi zokudla ezisetyenziswa ngokutya ngokuqhelekileyo. Ukungabalulekanga kwiprotheni kuyingozi enkulu kwingqondo yomntu kunye nenkqubo yesantya.
Esi sifo asinqabile kakhulu - kwi-1 yeziganeko ezingu-7000. Ngelishwa, umntwana onesi sifo angabonakala kubazali abanempilo ngokugqibeleleyo, ngaphandle kokuba bobabini abathwali be-latent, "ilale" ye-phenylketonuria.
Iimpawu ze phenylketonuria
Ingozi yesi sifo kukuba akunakwenzeka ukuyiqonda ngexesha lokuzalwa olutsha ngaphandle kweemvavanyo ezizodwa. Kwaye imiqondiso yokuqala ingavela kuphela kwiinyanga ezi-2-6:
- u buqhetseba;
- ihudo, ukuhlanza;
- itysile yehla yehla;
- utshintsho kwesikhumba;
- ukulibala kwengqondo.
Ukuba isifo asibonakali ngexesha kwaye asiqaleli unyango, ukulibala kwengqondo kungafikelela kwizinga eliphezulu.
Phenylketonuria: Ukuhlola
Ukufunyaniswa kweso sifo ngokukhawuleza, ukuhlolwa kwe-natalatal mass is used-study of the blood of the newborn to contain phenylalanine. Ukuba izalathisi ziphakanyisiwe, umntwana uthunyelwa kwi-geneticist ukucacisa ukuxilongwa.
Phenylketonuria: unyango
Into ephambili kwonyango yesi sifo esibi kakhulu isondlo esifanelekileyo nge phenylketonuria. Ingundoqo yesondlo ekukhutshweni kweemveliso eziqukethe i-phenylalanine, oko kukuthi, zonke ukutya eziprotheyini ezivela kwimfuyo. Ukusilela kwiprotheni kuya kuzaliswa ngeemfuno ezikhethekileyo ze-amino acid.
Ngokweminyaka, uvelwano lwenkqubo ye-nervous to prolit protein yehla kwaye phantse zonke izigulane ezine-phenylketonuria emva kweminyaka eyi-12-14 yobudala zitshintshela ekudleni okuqhelekileyo.