Ukuntuleka kwe-MCAD? Izimpawu, Izimbangela, Nokwelashwa

Ukuntuleka kwe-MCAD kuyisimo esingavamile sezofuzo lapho umzimba wakho ungakwazi khona ukwahlukanisa amafutha athile ukuze uthole amandla. Lokhu kwenzeka ngoba awunayo noma unezilinganiso ezincane zenjuzu ebizwa nge-medium-chain acyl-CoA dehydrogenase, esiza ekuhleni amafutha abe yizinhlobo zamandla amakhemikhali angasetshenziswa yizingo zakho.

Cabanga ngakho njengokuba unesinyathelo esingabalulekile esilahlekile ekuthuthukiseni amandla omzimba wakho. Uma ungadli isikhathi eside noma uma ugula, umzimba wakho ngokujwayelekile uguqukela ekushiseni amafutha agcinwe ukuze uthole amandla. Ngokuntuleka kwe-MCAD, lo msebenzi wokusiza awusebenzi kahle, okungabangela ukuphazamiseka okukhulu uma ungaphathwa kahle.

Ziyini izimpawu zokuntuleka kwe-MCAD?

Izimpawu zokuntuleka kwe-MCAD zivame ukuvela lapho umzimba wakho udinga ukusebenzisa amafutha ukuze uthole amandla, ikakhulukazi phakathi nezinkathi ezingenaso ukudla noma ngesikhathi sesifo. Izimpawu eziningi zivele kubantwana abasebancane nabantwana abancane, nakuba zingavele kamuva ekuphileni.

Nazi izimpawu eziyinhloko ongaziqaphela:

• Ubuthongo obukhulu noma ubunzima bokuvuka
• Ukugabha okungapheli
• Ukwehluleka kwamandla noma ukubonakala ubuthakathaka kakhulu
• Ukucasuka noma ukuguquka kokuziphatha
• Izinkinga zokuphefumula noma ukuphefumula okusheshayo
• Ukuhlushwa yizigameko ezinzima
• Ukulahlekelwa yikwazi noma i-coma

Lezi zimpawu zivame ukwenzeka lapho umntwana engadlanga amahora amaningana, elwa nokwanda komkhuhlane, noma ebe egabha futhi engahlali ukudla. Into ebalulekile okumele uyikhumbule ukuthi izimpawu ngokuvamile aziveli lapho konke kuhamba kahle futhi kudliwa ukudla okujwayelekile.

Kwezinye izimo ezingavamile, isilwane sokuqala singaba yi-sudden infant death syndrome (SIDS), kungakho ukuhlolwa kwabakhulelwe kule simo kubaluleke kakhulu. Noma kunjalo, ngokuphathwa okuhle, abantwana abane-MCAD deficiency bangaphila impilo evamile, enempilo.

Yini ebangela ukuntuleka kwe-MCAD?

Ukuntuleka kwe-MCAD kubangelwa izinguquko ku-ACADM gene, enikeza imiyalo yokwenza i-MCAD enzyme. Uzuza lesi simo kubazali bakho ngezofuzo zakho, kufana nendlela ozuza ngayo umbala wamehlo noma ubude.

Ukuze umuntu abe nokuntuleka kwe-MCAD, kudingeka azuze amakhophi amabili e-gene eguqukile - elinye elivela kumzali ngamunye. Lokhu kubizwa ngokuthi ukudluliselwa kwe-autosomal recessive. Uma uzuza ikhophi elilodwa eguqukile, ungumthwali futhi ngokuvamile ngeke ube nazimpawu.

Uma bobabili abazali bengenabantwana, kunethuba lika-25% ngokukhulelwa ngakunye ukuthi ingane yabo izoba nokuntuleka kwe-MCAD. Kunethuba lika-50% lokuthi ingane izoba ngumthwali njengabazali, kunethuba lika-25% lokuthi ngeke bazuze amakhophi aguqukile nhlobo.

Iguquko elivamile le-genetic ebangela ukuntuleka kwe-MCAD litholakala cishe ku-1 kuwo wonke ama-15,000 kuya ku-20,000 ezalweni zabantu baseYurophu eNyakatho. Ezinye izizwe zinezilinganiso ezihlukile, futhi lesi simo singathinta abantu banoma yiluphi uhlobo lobuzwe.

Nini okumele ubona udokotela ngenxa yokuntuleka kwe-MCAD?

Uma ingane yakho ihlonishwe ngokuntuleka kwe-MCAD ngokuhlolwa kwabakhulelwe, kufanele usebenze eduze nodokotela we-metabolic ngisho nangaphambi kokuba kuvele izimpawu. Ukunakekelwa kwesikhathi esisheshayo kuyisihluthulelo sokuvimbela ukuphazamiseka okukhulu.

Kufanele ufuna ukunakekelwa kwesikhathi esisheshayo kwezokwelapha uma ingane yakho ibonisa noma yiziphi izimpawu zexwayiso:

• Ubuthongo obukhulu obukhulu okunzima ukuwavusa
• Ukugabha okuqhubeka amahora amaningana
• Ukwenqaba ukudla noma ukuphuza amahora amaningana
• Izinkinga zokuphefumula noma ukusebenza kanzima ukuphefumula
• Noma iyiphi imisebenzi yokuthatha izidakamizwa
• Ukulahlekelwa yikwazi noma ukungaphenduli

Ungalindi ukubona ukuthi izimpawu ziyaqina ngokwazo. Ukuntuleka kwe-MCAD kungabangela ingozi ye-metabolic edinga ukwelashwa ngokushesha nge-IV fluids ene-glucose. Isikhathi sibaluleke kakhulu kulezi zimo.

Kufanele uthinte iqembu lakho lokukhathalela impilo noma nini lapho ingane yakho igula, ngisho nangento evamile njengokubanda noma isifo sesisu. Ukugula kukhuphula ingozi yokuphazamiseka, futhi udokotela wakho angafuna ukulandelela ingane yakho eduze noma alungise isimiso sayo sokudla.

Ziyini izimbangela zengozi zokuntuleka kwe-MCAD?

Imbangela enkulu yengozi yokuntuleka kwe-MCAD ukuba nabazali abathwala bobabili uguquko lwe-genetic oluyimbangela yalesi simo. Njengoba kuyisifo esidluliselwa ngezofuzo, umlando womndeni uwona mkhulu kakhulu okumele ucabangelwe.

Ezinye izimo zingabangela izimpawu kumuntu osevele enokuntuleka kwe-MCAD:

• Ukungahlali ukudla isikhathi eside (ukuzila ukudla)
• Ukuba naso noma yisiphi isifo, ikakhulukazi ngomkhuhlane noma ukugabha
• Ukucindezeleka okukhulu komzimba noma umzamo
• Ukuvezwa emazingeni abandayo
• Ukuthatha imithi ethile ethonya ukuguqulwa kwemvelo

Izingane ezincane nabantwana abancane baphakathi kengozi enkulu yokuphazamiseka ngoba ngokwemvelo banezindawo ezincane zamandla futhi bangase bakwazi ukuxhumana lapho bezizwa bengaphili kahle. Ukuguqulwa kwabo okusheshayo kwemvelo kusho nokuthi bangathuthukisa izinkinga ngokushesha kunabantwana abadala noma abantu abadala.

Lesi simo sithinta abantu bazo zonke izizwe, nakuba sivame kakhulu kulabo baseYurophu eNyakatho, ikakhulukazi baseScandinavia. Noma kunjalo, izinguquko ze-genetic ebangela ukuntuleka kwe-MCAD zitholakele kubantu abavela emazweni ahlukene emhlabeni jikelele.

Ziyini izinkinga ezingase zenzeke ngenxa yokuntuleka kwe-MCAD?

Uma ukuntuleka kwe-MCAD kungaphathwa kahle, kungabangela ingozi ye-metabolic, okuyingozi enkulu yezokwelapha. Lokhu kwenzeka lapho umzimba wakho ungakwazi ukukhiqiza amandla anele futhi izinto eziyingozi ziqala ukuqongelela egazini lakho.

Izinkinga ezinzima kakhulu zingafaka:

• I-low blood sugar enkulu (hypoglycemia)
• Ukuqongelelana kwezinto eziyingozi egazini
• Ukukhula kwengqondo noma ukonakala okuvela ezintweni eziyingozi
• Izinkinga zesibindi noma ukukhula
• Izinkinga zesivinini senhliziyo
• I-coma noma ukulahlekelwa yikwazi
• Kwezinye izimo ezingavamile, ukufa uma kungaphathwa ngokushesha

Izindaba ezinhle ukuthi lezi zinkinga ezinzima zivimbeka kakhulu ngokuphathwa okuhle. Abantwana abaningi abane-MCAD deficiency abalandela uhlelo lwabo lokwelashwa futhi bagwema ukuzila ukudla isikhathi eside benza kahle kakhulu futhi banokuthuthuka okuvamile.

Abanye abantu bangase babe nemiphumela emihle eqhubekayo njengokuzwa ukukhathala kalula noma ukuba nokubekezelela okuncane kokweqa ukudla. Noma kunjalo, ngokunakekelwa okufanele nokuguqulwa kwesitayela sokuphila, abantu abaningi abane-MCAD deficiency bangabamba iqhaza kuzo zonke izinto ezivamile ezihlanganisa imidlalo kanye nezinye imisebenzi yomzimba.

Ukuntuleka kwe-MCAD kungavimbeka kanjani?

Njengoba ukuntuleka kwe-MCAD kuyisimo sezofuzo ozalwa naso, lesi simo ngokwaso singavimbeka. Noma kunjalo, izinkinga ezinzima cishe zihlale zivimbekile ngokuphathwa okuhle nokunakekelwa.

Izindlela ezisebenzayo kakhulu zokuvimbela zigxile ekugwemeni izinto ezingabangela ingozi ye-metabolic. Lokhu kusho ukugcina izikhathi zokudla eziqondile futhi ungavumeli izikhathi ezide ezingenaso ukudla, ikakhulukazi ngesikhathi sesifo noma ukucindezeleka.

Emindenini ehlela ukuba nezingane, ukwelulekwa kwe-genetic kungakusiza ukuqonda izingozi zakho uma ungumthwali wezinguquko ze-genetic ebangela ukuntuleka kwe-MCAD. Ukuhlolwa kwangaphambi kokuzalwa kukhona uma bobabili abazali baziwa njengabathwali.

Izinhlelo zokuhlola abakhulelwe emazweni amaningi manje zihlanza ukuntuleka kwe-MCAD, okuvumela ukuhlonishwa kwangaphambi kwesikhathi nokuphathwa ngaphambi kokuba kuvele izimpawu. Lokhu kutholakala kwangaphambi kwesikhathi kuye kwathuthukisa kakhulu imiphumela yabantwana abanesimo.

Ukuntuleka kwe-MCAD kuhlonishwa kanjani?

Izimo eziningi zokuntuleka kwe-MCAD manje zihlonishwa ngokuhlola okuvamile kwabakhulelwe, okuhlola isampula encane yegazi ethathiwe esithendeni sengane yakho ezinsukwini ezimbalwa zokuqala zokuphila. Lokhu kuhlolwa kungathola lesi simo ngaphambi kokuba kuvele izimpawu.

Uma ukuhlolwa kwabakhulelwe kusikisela ukuntuleka kwe-MCAD, udokotela wakho uzoyala ukuhlolwa okuqhubekayo ukuze aqinisekise ukuxilongwa. Lokhu ngokuvamile kuhlanganisa ukulinganisa izinto ezithile egazini lengane yakho nasemchameni oqongelela lapho i-MCAD enzyme ingasebenzi kahle.

Ukuhlolwa kwe-genetic kungabuye kuqinisekise ukuxilongwa ngokubuka izinguquko ku-ACADM gene. Lokhu kuhlolwa kungathola izinguquko ezithile ze-genetic ebangela lesi simo futhi kungasiza ekucwaningeni komndeni noma ekuqinisekiseni ukuxilongwa ezimweni ezingacaci.

Kwezinye izimo, odokotela bangase baxilongwe ukuntuleka kwe-MCAD kamuva ebuntwaneni uma ingane ithuthukisa izimpawu ngesikhathi sesifo noma ngemuva kokungahlali ukudla isikhathi eside kakhulu. Ukuhlolwa kokuxilongwa kufanayo, kodwa ukuba nezimpawu kwenza ukuxilongwa kube okusheshayo.

Yikuphi ukwelashwa kokuntuleka kwe-MCAD?

Ukwelashwa okuyinhloko kokuntuleka kwe-MCAD kugxile ekuvimbeleni umzimba wakho ukuba udinga ukwahlukanisa amafutha ukuze uthole amandla. Lokhu kufezwa ikakhulukazi ngokuphathwa kokudla nokugwema izikhathi ezide ezingenaso ukudla.

Uhlelo lwakho lokwelashwa luzofaka:

• Ukudla okuvamile, okuvamile nokudla okuncane ukuze kugcinwe i-blood sugar
• Ukugwema ukuzila ukudla amahora angaphezu kwama-8-12 (ancane kubantwana abasebancane)
• Ukudla okunemafutha amancane futhi okune-carbohydrates eningi
• Amafomu akhethekile ezokwelapha noma izithasiselo uma kunconywa
• Izinhlelo zesenzo eziphuthumayo ngezikhathi zesifo

Ngesikhathi sesifo noma izikhathi lapho ingane yakho ingakwazi ukudla ngokujwayelekile, ukwelashwa kuyaqina. Udokotela wakho angase ancome ukunikeza iziphuzo ezikhethekile ezine-glucose noma, kwezinye izimo ezinzima, ukungena esibhedlela ukuze uthole i-IV fluids ene-glucose.

Abantu abaningi abane-MCAD deficiency basebenza neqembu elihlanganisa ochwepheshe be-metabolic, umtapo wezondlo ojwayelene nesimo, nodokotela wabo ojwayelekile. Le ndlela yeqembu iyasiza ekuqinisekiseni ukuthi zonke izici zokunakekelwa zihlanganiswe futhi ukuthi unekusekelwa lapho imibuzo ivela.

Ngokwelashwa okufanele, abantwana abane-MCAD deficiency ngokuvamile bakhula futhi bathuthuka ngokujwayelekile futhi bangabamba iqhaza kuzo zonke imisebenzi yabantwana evamile. Isici esiyinhloko ukulandela isimiso sokudla futhi ukulungela izikhathi zesifo noma ukucindezeleka.

Indlela yokuphatha ukuntuleka kwe-MCAD ekhaya?

Ukuphatha ukuntuleka kwe-MCAD ekhaya kugxile ekugcineni izindlela zokudla eziqondile nokuba ulungile ngezimo ezingabangela izimpawu. Umgomo ukugcina i-blood sugar yengane yakho iqinile futhi ugweme isidingo somzimba wayo sokwahlukanisa amafutha ukuze uthole amandla.

Isimiso sakho samasonto onke kufanele sihlanganise ukunikeza ukudla nokudla okuncane njalo ngamahora angu-3-4 ngosuku, futhi ungavumeli ingane yakho ihlale ngaphezu kwamahora angu-8-12 ingadli (izikhathi ezimfushane kubantwana abasebancane nabantwana abancane). Gcina ukudla okuncane okulula ukuhlanzwa, okune-carbohydrate eningi kulula ukuthola.

Lapho ingane yakho igula, kubaluleke kakhulu ukulandelela ukudla nokuphuza kwayo eduze. Nikeza iziphuzo ezincane, ezivamile ezine-glucose uma ingakwazi ukugcina ukudla okuqinile. Xhumana neqembu lakho lokukhathalela impilo ekuqaleni kwanoma yisiphi isifo ukuze uthole isiqondiso.

Gcina njalo izinto zokusiza eziphuthumayo, kuhlanganise ama-glucose gels, iziphuzo zezemidlalo, noma ezinye izinto ezisheshayo zeshukela. Qiniseka ukuthi abaphathi, othisha, namalungu omndeni baqonda lesi simo futhi bazi ukuthi yini okumele bayenze uma ingane yakho ingaphili kahle.

Cabanga ukuthola i-medical alert bracelet yengane yakho ebonisa isimo sayo. Lokhu kungaba ulwazi olukhulu kubaphenduli bephuthumayo uma ingane yakho idinga ukunakekelwa kwesikhathi esisheshayo kwezokwelapha.

Kufanele ulungiselele kanjani i-appointment yakho yodokotela?

Ngaphambi kwe-appointment yakho, bhala phansi noma yiziphi izimpawu noma ukukhathazeka okuye kwabonakala, ngisho noma kubonakala kuncane. Faka ulwazi mayelana nokuthi izimpawu zenzeke nini nokuthi ingane yakho yayenzani noma yayidla nini ngaleso sikhathi.

Letha idayari yokudla eningiliziwe ebonisa izindlela zokudla zengane yakho emasontweni adlule. Lokhu kusiza udokotela wakho ukuqonda ukuthi uhlelo lokuphatha olukhona lusebenza kangakanani nokuthi ngabe kukhona yini izinguquko ezidingekayo.

Lungiselela uhlu lwemibuzo ofuna ukuyibuza. Lokhu kungafaka ukukhathazeka ngokukhula nokuthuthuka, imibuzo mayelana nokuphatha lesi simo ngesikhathi sokuhamba, noma ukukhathazeka ngezinto ingane yakho engabamba iqhaza kuzo ngokuphepha.

Uma ingane yakho iye yagula muva nje noma ibuye ibe nezehlakalo ezikhathazayo, bhala phansi imininingwane kuhlanganise nokuthi kwenzeke ini, isikhathi eside kangakanani, nokuthi wenzani ukuze usize. Lolu lwazi lusiza udokotela wakho ukuhlola ukuthi uhlelo lwakho lokuphuthumayo lusebenza kahle kangakanani.

Qiniseka ukuthi uletha zonke izidakamizwa zamuva nezithasiselo ingane yakho ezithathayo, kanye nanoma yiziphi iziphumo zokuhlolwa zamuva noma amarekhodi avela kwabanye abahlinzeki bezempilo. Ukuba nolwazi oluphelele kusiza udokotela wakho ukunikeza ukunakekelwa okuhle kakhulu.

Yini eyinhloko mayelana nokuntuleka kwe-MCAD?

Ukuntuleka kwe-MCAD kuyisimo sezofuzo esilawuleka esithinta indlela umzimba wakho osetshenziswa amafutha ngayo ukuze uthole amandla. Nakuba kudinga ukunakekelwa okuqhubekayo nokunakekelwa, abantwana abaningi abanesimo bangaphila impilo evamile, enempilo ngokuphathwa okuhle.

Into ebaluleke kakhulu okumele uyikhumbule ukuthi ukuvimbela ukuphazamiseka kusebenza kakhulu. Ngokugcina izikhathi zokudla eziqondile, ukugwema ukuzila ukudla isikhathi eside, nokuba nehlelo elihle lokuphatha isifo, izinkinga ezinzima cishe zihlale zivimbekile.

Ukuhlonishwa kwangaphambi kwesikhathi ngokuhlola abakhulelwe kuye kwathuthukisa kakhulu imiphumela yabantwana abane-MCAD deficiency. Uma ingane yakho ihlonishwe, ukusebenza eduze neqembu lakho lokukhathalela impilo nokulandelwa uhlelo lokuphatha kunikeza ingane yakho ithuba elihle kakhulu lokukhula okuvamile, ukuthuthuka, nokubamba iqhaza kuzo zonke imisebenzi yabantwana.

Khumbula ukuthi ukuba nokuntuleka kwe-MCAD akuchazi ikusasa lengane yakho. Ngokwazi, ukulungiselela, nokunakekelwa okuhle kwezokwelapha, abantwana abanesimo ngokuvamile benza kahle njengabalingani babo esikoleni, ezemidlalo, nakwezinye izici zokuphila.

Imibuzo evamile ebuzwa mayelana nokuntuleka kwe-MCAD

Ingabe abantwana abane-MCAD deficiency bangadlala imidlalo futhi babe semisebenzini yomzimba?

Yebo, abantwana abane-MCAD deficiency bangabamba iqhaza ezemidlalo nasemisebenzini yomzimba njengabanye abantwana. Isici esiyinhloko ukuqinisekisa ukuthi badla ngokufanele ngaphambi nangesikhathi semisebenzi ende futhi bahlale bephuza amanzi. Ungase udinga ukunikeza ukudla okwengeziwe ngesikhathi sokuqeqeshwa okude noma imiqhudelano, futhi abaqeqeshi kufanele baqonde isimo sengane yakho nehlelo lokuphuthumayo.

Ingabe ingane yami izokhula ukuntuleka kwe-MCAD?

Cha, ukuntuleka kwe-MCAD kuyisimo sezofuzo esiphila impilo yonke esingapheli. Noma kunjalo, njengoba abantwana bekhula, bavame ukuba ngcono ekuphatheni isimo sabo futhi bangase babe nezehlakalo ezimbalwa ezikhathazayo. Abantu abadala abane-MCAD deficiency ngokuvamile badinga ukulandelelwa okuncane kunabantwana abancane, kodwa basadinga ukugwema ukuzila ukudla isikhathi eside futhi bagcine imikhuba emihle yokudla.

Kufanele ngenze ini uma ingane yami igabha futhi ingakwazi ukugcina ukudla?

Uma ingane yakho igabha futhi ingakwazi ukugcina ukudla, lesi yisimo esingase sibe sibi esidinga ukunakekelwa ngokushesha. Zama ukunikeza iziphuzo ezincane, ezivamile ezine-glucose njengeziphuzo zezemidlalo noma amajusi acacile. Xhumana neqembu lakho lokukhathalela impilo ngokushesha ukuze uthole isiqondiso, futhi ungangabazi ukuya ekamelweni lokuphuthumayo uma ingane yakho iba buthongo kakhulu, iqhubeka igabha, noma ibonisa ezinye izimpawu ezikhathazayo.

Ukuntuleka kwe-MCAD kuzoyithinta kanjani ingane yami ukukhula nokuthuthuka?

Ngokuphathwa okufanele, ukuntuleka kwe-MCAD ngokuvamile akukuthinti ukukhula nokuthuthuka okuvamile. Abantwana abalandela uhlelo lwabo lokwelashwa futhi bagwema ingozi ye-metabolic ngokuvamile bafinyelela kuzo zonke izigaba zabo zokuthuthuka ngesikhathi futhi bakhule ngezilinganiso ezivamile. Ukuhlola okuvamile neqembu lakho lokukhathalela impilo kuzolandelela intuthuko yengane yakho futhi kuqinisekise ukuthi konke kuhamba kahle.

Ingabe bobabili abazali bangahlolwa ukuze babone ukuthi bangabathwali?

Yebo, ukuhlolwa kwe-genetic kukhona ukuze kunqume ukuthi abazali bangabathwali bezinguquko ze-genetic ebangela ukuntuleka kwe-MCAD. Lokhu kuhlolwa kunconywa ikakhulukazi uma unemlando womndeni wesimo noma uma uhlela ukuba nezingane futhi ufuna ukuqonda izingozi zakho. Umluleki we-genetic angakusiza ekuchazeni inqubo yokuhlolwa nokuthi imiphumela isho ukuthini ngomndeni wakho.