Ngezinye izikhathi zonke izinhlelo eziqhakazile kanye nethemba elidlula abazali abasha lingadlulelwa inhlangano eyodwa. Isibonelo, ukuxilongwa okubi yi-phenylketonuria.
Izimbangela ze phenylketonuria ezinganeni
I-Phenylketonuria isifo sofuzo, okuyisisekelo sokuphulwa komzimba we-amino acid, okungukuthi, ukungabi khona kwe-enzyme phenylalanine hydroxylase, okuyiyona eyabangela ukushintshaniswa kwe-phenylalanine, amaprotheni atholakala ekudleni okuningi okwenziwa ngokudla okujwayelekile. Ukungaphathwa kwamaprotheni kuyingozi enkulu ebuchosheni bomuntu nasesimweni sezinzwa.
Lesi sifo asiyona into engavamile - kumacala angu-1 kwangu-7000. Ngeshwa, ingane ephethe lesi sifo ingavela kubazali abanempilo enhle, uma nje bobabili abathwali be-gene "yokulala" eseceleni, i-phenylketonuria eseduze.
Izimpawu ze phenylketonuria
Ingozi yalesi sifo ukuthi akunakwenzeka ukuyiqaphela ngenkathi usanda kuzalwa ngaphandle kokuhlolwa okukhethekile. Futhi izimpawu zokuqala zingavela ezinyangeni ezingu-2-6 kuphela:
- ukuxhuma;
- isifo sohudo, ukuhlanza;
- ukunciphisa ithoni ye-muscle;
- izinguquko esikhumbeni;
- ukuphuza kwengqondo.
Uma lesi sifo singabonakali ngesikhathi futhi singaqala ukwelashwa, ukuphuza kwengqondo kungafinyelela izinga eliphezulu.
I-Phenylketonuria: Ukuhlola
Ukuze kutholakale lesi sifo ngesikhathi esifanele, ukuhlolwa kwe-neonatal mass kusetshenziselwa - ukutadisha igazi lesana olusanda kuzalwa ukuqukethe i-phenylalanine. Uma izinkomba ziphakanyiswa, ingane ithunyelwa ku-geneticist ukucacisa ukuxilongwa.
Phenylketonuria: ukwelashwa
Into eyinhloko ekwelapheni kwalesi sifo esibi kakhulu ukudla okunomsoco nge phenylketonuria. Okuyisisekelo sokudla ekukhunjweni kwemikhiqizo equkethe i-phenylalanine, okungukuthi, zonke iziqu zokudla zesilwane. Ukuntuleka kwamaprotheni kuzogcwala ama-amino acid akhethekile.
Ngokweminyaka yobudala, ubuzwe besistimu yezinzwa ku-protein ye-unsplit buthaka futhi cishe zonke iziguli ezine-phenylketonuria ngemuva kweminyaka engu-12-14 ziguqule ekudleni okujwayelekile.