Phenylketonuria - ntoni na nendlela ukuhlala kuyo

Esi sifo ludityanisiwe kakuhle ukutya amino asidi. Ngokukodwa, phenylalanine. Ngenxa yoko ekruqukile abasabela iinguqu kwalo acid acid ukuya kwenye (tyrosine) ngenxa ukuswela enzyme ndikunqwenele kunye ityhefu iimveliso (phenyl ketone) yande ngo-emzimbeni. Zinelungelo nefuthe elibi, ngakumbi kwi-luvo. Nezwi ngokuthi kwi-Latin - "ubukho phenyl ketone kwi umchamo" - yiloo nto elithi "phenylketonuria". Yintoni na le sifo metabolic, ngoku ecacileyo, kwaye ityala le ngxaki iza kuxhomekeka anomaly yemfuza. It ezidluliselwa ngendlela sofuzo autosomal.

wenza indlela ezisemthethweni zoxilongo

Ukuba loo mntu unesiphene sofuzo ezwi le enzyme efunekayo, kukho phenylketonuria. Ntoni le nto, siye saqonda. Xa ukubeka le isigulo? Isifo Kuyabonakala ukuba abonakalise ntoni ngokwayo ngoko nangoko emva kokuzalwa, abantwana kubonakala ukuba babe yinto eqhelekileyo, izalelwe elide kunye nophuhliso eqhelekileyo. Noko ke, kamva (kwiinyanga 2-6) kuvela iimpawu:

• ongekenziwa nophuhliso ngokwasemzimbeni nasengqondweni;
• ukubila luqiniswe phambi uhlobo "mouse" nevumba umntwana;
• nochuku, tearfulness;
• ukozela okanye silale;
• yombono
• Kusenokwenzeka ukuba ukugabha.

Kwakhona, xa kukuvela izitshanguba ulusu (dermatitis, nangokhwekhwe) iboniswe phenylketonuria. Yintoni na nendlela kukhangeleka ngathi isigulane, kucacile, kodwa ke ezi mpawu azikho ezithile - izifo ezininzi azinazo iimpawu ezifanayo.

Indlela yokubona esi sifo

Ukuba ugqirha kurhanelwa sifo ngokusekelwe imiqondiso lwezonyango, ukuba unikwe isixa esithile phenylalanine egazini.

Kwakhona kwiziko lonyango bagwilika umchamo isampulu, phenylketonuria ndlela, kungaba unesifo iintsuku 10-12 yobudala. Ngoku izibhedlele imini 3-4 ukusuka kokuzalwa kosana lwakho uchitha ezinye iimvavanyo zokuhlola ukuba ukuchonga iingxaki metabolic ezahlukeneyo. Uvavanyo yale ngezifo ngomnye wabo. Esi sifo sivame ukuxilongwa phenylketonuria, omnye umntwana 8,000 uzalelwe nale ngxaki. iindlela ezikhoyo loxilongo kunye nesifo genetic: Ubhaqo izakhi kwi sofuzo ehambelanayo.

Indlela ukuba aphilise isigulane

Siyaqonda ukuba isifo yemfuza isifo ezinxulumene ezifana phenylketonuria. Kuthetha ukuthini? Kukho iindlela ezimbini zabantu unyango kunye ukuswela ilifa le enzyme: ukuzisa elidlulileyo emzimbeni l ngaphandle ekudleni ngenxa iimveliso ngenxa ukwetyisa, nokwenziwa, ukutya eliphakathi zifuna oku enzyme. Kwimeko kwesi sifo usebenzisa uguqulelo oludlulileyo. Izigulane azinyine ezityiwa phenylalanine ekutyeni. Oku kufuneka kwenziwe kwangethuba kangangoko ukuthintela ukuba ukunxila engqondweni vuhlayiseki. Kuba ukutya usebenzise umxube ezizodwa protein ngaphandle phenylalanine, ukuze kubuyekezelwe yokunqongophala iiprothini.

Ngophuhliso kunye neendlela zonyango kwindlela eyahlukileyo - ukuqaliswa enzyme emifuno obambeleyo. Ndine mihla indlela unyango yemfuza: ukungenisa gene ukulawula ukuveliswa enzyme elishiyiweyo.