I-propionic acidemia iyisifo esingavamile nesingathi sína esithinta izinhlelo eziningi zomzimba, okuhlanganisa ubuchopho nenhliziyo. Ngokuvamile sitholakala ngokushesha ngemva kokuzalwa. Sithinta abantu abayi-3,000 kuya kwabayi-30,000 e-United States.
Ngenxa yokukhubazeka kwezakhi zofuzo, umzimba awukwazi ukucubungula kahle izingxenye ezithile zamaprotheni namafutha. Lokhu ekugcineni kuholela ezimpawini zalesi simo. Uma kungatholakali futhi kwelashwa ngesikhathi, kungaholela ekukhomeni ngisho nasekufeni.
Lesi sihloko sichaza izimpawu ze-propionic acidemia nokuthi singayixilonga kanjani. Sixoxa ngokwelashwa kwalesi simo, ezinye izinkinga zezokwelapha ezihambisana naso, kanye nolwazi olujwayelekile mayelana nobude besikhathi sokuphila se-propionic acidemia.
Ezimweni eziningi, izimpawu ze-propionic acidemia zivela ezinsukwini ezimbalwa zokuzalwa. Izingane zizalwa ziphilile kodwa ngokushesha zibonisa izimpawu ezifana nokudla okungondleki kahle kanye nokusabela okunciphile. Uma kungatholakali futhi kungalashwa, kungase kuvele ezinye izimpawu.
Ngokuvamile, izimpawu zingase zivele ekuqaleni kwengane, ebusheni, noma ebudaleni. I-propionic acidemia ingaholela ezinkingeni ezingamahlalakhona, kungakhathaliseki ukuthi iqala nini.
I-Propionic acidemia “iphutha lokuzalwa lokusetshenziswa kwe-metabolism”. Leli yiqembu lezifo ezingavamile ezibangelwa amaphutha ahlukahlukene ezakhi zofuzo. Zingabangela izinkinga ngokusetshenziswa kwe-metabolism, inqubo lapho izakhamzimba ekudleni ziguqulwa zibe amandla.
I-metabolism yenzeka ngochungechunge lwezindlela zamakhemikhali eziyinkimbinkimbi nezihlelekile, ngakho-ke izinkinga ngezakhi zofuzo eziningi ezahlukene zingaholela ekuphazamisekeni kwezinqubo ezijwayelekile ze-metabolism.
I-Propionic acidemia nayo iyingxenye yeqembu lalezi zifo ezibizwa ngokuthi i-organic aciduria. Lezi zinkinga zofuzo zibangelwa ukuphazamiseka kwe-metabolism yezinhlobo ezithile zama-amino acid (izakhi zamaprotheni) kanye nezingxenye ezithile zama-carbohydrate namafutha.
Ngenxa yalokho, amazinga amanye ama-asidi avame ukuba khona emzimbeni angase aqale ukukhuphukela emazingeni angenampilo.
Amaphutha kuma-enzyme ahlukene abangela izinhlobo ezahlukene ze-organic aciduria. Isibonelo, isifo se-maple syrup singesinye isifo esingavamile kulesi sigaba. Sathola igama laso ngenxa yephunga laso elihlukile.
Iphunga elifana nenhlanzi liyaziwa nangokuthi iphunga le-propionic acidemia futhi lihlotshaniswa nenye yezindlela zakhe zokwelapha impilo yonke.
I-Propionic acidemia ibangelwa yiphutha kwelinye lamajini amabili: i-PCCA noma i-PCCB. Lawa majini amabili akha izingxenye ezimbili ze-enzyme ebizwa ngokuthi i-propionyl-CoA carboxylase (PCC). Ngaphandle kwale enzyme, umzimba awukwazi ukugaya kahle ama-amino acid athile kanye nezingxenye ezithile zamafutha ne-cholesterol.
Hhayi okwamanje. Abacwaningi base bevele bethole izakhi zofuzo ze-PCCA kanye ne-PCCB, kodwa njengoba isayensi iqhubeka, bafunda ukuthi izinguquko zofuzo ezingafika ku-70 zingadlala indima. Ukwelashwa kungahluka kuye ngokuguqulwa kwezakhi zofuzo, futhi ezinye izifundo zokwelapha izakhi zofuzo zibonise imiphumela ethembisayo yokwelashwa kwesikhathi esizayo. Njengamanje, kugxilwe ekwelashweni okukhona kwalesi sifo.
Ezinye izimpawu ze-propionic acidemia zingase zihlanganise izinkinga ngokukhiqizwa kwamandla ngenxa yokungasebenzi kahle kwe-metabolic.
I-Propionic acidemia yisifo sofuzo esibangelwa yi-autosomal recessive. Lokhu kusho ukuthi umuntu kumele azuze ifa lofuzo elithintekile kubazali bakhe ukuze athole lesi sifo.
Uma umbhangqwana unengane ezelwe ine-propionic acidemia, kunethuba elingamaphesenti angama-25 lokuthi ingane elandelayo nayo izoba nalesi sifo. Kubalulekile futhi ukuhlola izingane zakubo ezikhona ezingase zibe nezimpawu kamuva. Ukuxilongwa kusenesikhathi kanye nokwelashwa kungasiza ekuvimbeleni izinkinga zesikhathi eside zesifo.
Ukukhuluma nomeluleki wezakhi zofuzo kungaba usizo kakhulu emindenini eminingi. Lokhu kuzokuvumela ukuthi uqonde izingozi zesimo sakho. Ukuhlolwa kwangaphambi kokubeletha kanye nokukhetha umbungu nakho kungaba izinketho.
Ukuxilongwa kwe-propionic acidemia kudinga umlando ophelele kanye nokuhlolwa ngokomzimba, kanye nokuhlolwa kwelebhu. Kubalulekile ukwenza ukuxilongwa ngokushesha okukhulu, njengoba labo abathintekile bevame ukugula kakhulu.
Izinhlobo eziningi ezahlukene zezinkinga zezokwelapha zingabangela izimpawu ezinzima zezinzwa kanye nezinye izimpawu ezibonakala ku-propionic acidemia, kufaka phakathi ezinye izifo ezingavamile zofuzo. Ochwepheshe bezempilo kufanele bakhiphe ezinye izifo ezingase zitholakale ngokunciphisa imbangela ethile.
Abantu abane-propionic acidemia bangase babe nokukhubazeka ekuhlolweni okukhethekile. Isibonelo, abantu abanalesi sifo banamazinga aphezulu ento ebizwa ngokuthi i-propionylcarnitine.
Ngokusekelwe kulezi zivivinyo zokuqala, odokotela basebenza ukuqinisekisa ukuxilongwa. Lokhu kungafaka phakathi izivivinyo zokuhlola ukuthi i-enzyme ye-PCC isebenza kahle kangakanani. Ukuhlolwa kofuzo kwezakhi zofuzo ze-PCCA kanye ne-PCCB nakho kungasetshenziswa ukucacisa ukuxilongwa.
Ngezinye izikhathi izinsana ziqala ukuxilongwa ngokusekelwe emiphumeleni yokuhlolwa okujwayelekile kokuhlolwa kwezinsana ezisanda kuzalwa. Kodwa-ke, akuzona zonke izifundazwe noma amazwe emhlabeni wonke ahlola lesi sifo esithile. Ngaphezu kwalokho, izinsana zingase zibonise izimpawu ngaphambi kokuba imiphumela yalezi zivivinyo zokuhlolwa itholakale.
Ukugula okubukhali okubangelwa yi-propionic acidemia kuyisimo esiphuthumayo sezokwelapha. Ngaphandle kokusekelwa, abantu bangafa phakathi nalezi zenzakalo. Zingase zenzeke ngaphambi kokuxilongwa kokuqala noma ngezikhathi zokucindezeleka noma ukugula. Laba bantu badinga ukwesekwa okujulile esibhedlela.
Abantu abane-propionic acidemia babhekene nezinkinga eziningi futhi bavame ukuba nezinye izimo zezokwelapha. Isibonelo, i-cardiomyopathy ekhula ebuntwaneni (iminyaka ephakathi engu-7) iyimbangela yokufa okuningi. Kodwa yonke indaba ihlukile. Ngokunakekelwa kwekhwalithi, abantu abaningi abane-propionic acidemia bangaphila impilo egcwele futhi ende. Ithimba lochwepheshe bezifo zofuzo ezingavamile kanye nochwepheshe bezempilo bangasiza.
I-propionic acidemia ivame ukuholela enkingeni yezempilo ezinsukwini ezimbalwa zokuqala zokuphila engazwakala inzima. Inqubo yokucubungula okwenzekayo ingathatha isikhathi. Idinga ukunakekelwa okuqhubekayo, kodwa abantu abaningi abane-propionic acidemia bayaqhubeka nokuphila impilo egcwele. Zizwe ukhululekile ukuxhumana nabangani, umndeni, kanye nabasebenzi bezokwelapha ukuze uthole ukwesekwa.
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Umbhali: Ruth Jessen Hickman, MD URuth Jessen Hickman, MD, ungumbhali wezokwelapha nezempilo ozimele kanye nombhali wezincwadi ezishicilelwe.