Ufakelo lwamalungu omzimba lusindisa amawele ngezifo ezinqabileyo

Ukufakelwa okumangalisayo kwaye kuvula iindlela ezintsha zophando kunye nezigulana ezinezifo ezinqabileyo

Amawele amabini ane-16 leminyaka ubudala Amakhwenkwe anikwe indawo entsha yokuqeshisa ngobomi ngenxa yesisa sosapho olunikezelayo kunye nobuchule bezonyango Isibhedlele iBambino Gesù eRoma. Bobabini babephethwe yintlungu i-methylmalonic acid, isifo esinqabileyo se-metabolic esichaphazela kuphela i-2 kubantu be-100,000. Kwisiganeko esingaqhelekanga, bahamba isibindi kabini kunye nezintso ngosuku olunye, ingenisa isahluko esitsha esizele lithemba.

Yintoni i-methylmalonic acidemia

I-methylmalonic acidemia sisifo esingaqhelekanga esichaphazela, njengoko kukhankanyiwe, malunga nabantu aba-2 kwi-100,000. Kwenzeka nini umzimba uqokelela i-methylmalonic acid eninzi kakhulu. Le acid inetyhefu emzimbeni, yonakalisa amalungu anje ngengqondo, izintso, amehlo kunye ne-pancreas. Abantwana abanesi sifo banokuba neengxaki ukususela ekuzalweni. Oku kuquka ukuphazamiseka kwengqondo, ukungakwazi ukufunda, ukukhula kancinane, nokonakala kwezintso.

Umngeni ojongene nawo, iThemba eliHlaziyiweyo

Ukuqokelelana kwe-methylmalonic acid ebesongela amalungu abalulekileyo amawele okoko ezelwe. Iingxaki zokunxila, ukusilela kwemithambo-luvo, nokungasebenzi kakuhle kwezintso kwakuyinxalenye yenkqubo yabo. Noko ke, ngenxa yenkqubela yezonyango nokufumaneka koqhaqho-fakelo, ngoku banembono entsha ngokupheleleyo neyakhayo.

Ubomi obuhlaziyiweyo, obungenamida

Ukutshintshwa kwelungu lomzimba kuye kwaguqula umgangatho wobomi bamawele, ebavumela ukuba baphile ubomi obufana nobo boontanga babo. Ngaphambili babethintelwe kukutya okungqongqo, ngoku banokunandipha inkululeko enkulu kunye nokuzimela, baphila ubomi "obuqhelekileyo" ngaphandle kokukhathazeka rhoqo malunga nokulawula ukugula kwabo.

Ubumbano kunye neThemba leKamva

Xa sithetha ngomnikelo wamalungu, ibali lamawele amabini lisikhumbuza amandla esisa kunye nethemba. Umama wala makhwenkwe, olingqina kuhambo lwabo, umema ezinye iintsapho ukuba zikuthathele ingqalelo uqhaqho-fakelo njengethuba lotshintsho oluhle kwabo babathandayo. Ngothando kunye nomanyano, ubomi bunokuguqulwa. Ibali labo elikhuthazayo nelikhuthazayo libonisa ukuba ubunzima bunokoyiswa ngokuzinikela.

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