Ingabe ingane yakho ihlala ikhathele? Ingabe ayinaso isifiso sokudla? Ake sifunde ngalokhu kuntuleka kwe-MCAD?

Ingabe ingane yakho encane ihlala ikhathele futhi ilele? Ingabe kuba nzima kakhulu noma ibanjwa umkhuhlane noma iphuthelwe ukudla? Ingabe iyahlanza noma ilahlekelwa amandla ngezikhathi ezinjalo? Mhlawumbe kukhona isimo sezokwelapha ngemuva kwalezi zinto esingakhulumi kakhulu ngaso, kodwa kubaluleke kakhulu ukusazi. Leso esinye isimo esibizwa ngokuthi ukuntuleka kwe-MCAD. Namuhla, sizokhuluma ngalokhu kalula, ngendlela ongayiqonda.

Kalula nje, kuyini ukuntuleka kwe-MCAD?

Cabanga ngemizimba yethu njengemoto. Imoto idinga uphethiloli ukuze isebenze. Ngendlela efanayo, umzimba wethu udinga amandla ukuze wenze umsebenzi wawo. Sithola la mandla ekudleni esikudlayo. Imithombo yethu eyinhloko yamandla ama-carbohydrate (ama-starch) namafutha.

Ngokuvamile, imizimba yethu isebenzisa ama-carbohydrate kuqala ukuze ithole amandla. Kodwa uma sichitha amahora amaningi singadli, noma uma singakwazi ukudla ngenxa yokugula okufana nomkhuhlane noma ukuhlanza, imizimba yethu iqala ukusebenzisa amafutha njengomthombo wesibili wamandla.

Kukhona i-enzyme ekhethekile emzimbeni wethu eguqula la mafutha abe amandla. Ibizwa ngokuthi i-Medium-chain acyl-coenzyme A dehydrogenase . Le enzyme isiza ekuhlukaniseni ama-fatty acid aphakathi nendawo atholakala ekudleni esikudlayo nasemizimbeni yethu futhi idale amandla.

Enganeni enesifo se-MCAD , umzimba awukhiqizi ngokwanele i-enzyme ekhethekile engikhulume ngayo. Lokho kusho ukuthi kukhona ukuntuleka kwayo. Ngakho-ke okwenzekayo ukuthi uma le ngane ingadli isikhathi eside, umzimba wayo awukwazi ukusebenzisa amafutha ukuze ukhiqize amandla. Ngenxa yalokhu, amandla omzimba ancipha ngokuzumayo, futhi ingane izithola isesimweni esinzima.

Lesi simo sivela kanjani? Ingabe sibangelwa ufuzo?

Yebo, lesi yisimo esibangelwa izakhi zofuzo ngokuphelele . Lokho kusho ukuthi sizuzwe njengefa kumama noma kuyise. Imbangela yalokhu ukuguquka kwezakhi zofuzo okubizwa ngokuthi i-'ACADM'.

Lokhu kuzuzwe njengefa ngendlela 'yokuphindaphindwa kwe-autosomal' . Ngizochaza ukuthi lokho kusho ukuthini kalula.

Ake sithi bobabili abazali banekhophi eyodwa enempilo yejini le-'ACADM', kanti enye ikhophi inoshintsho oluncane (ukuguqulwa). Kodwa ngenxa yokuthi banekhophi eyodwa enempilo, akekho kubazali obonisa izimpawu. Babizwa ngokuthi ``abathwali.''

Uma abazali ababili abathwala izingane njengalaba benengane,

• Kunethuba elingama-25% lokuthi ingane izoqala lesi simo (uma izuza ifa lesakhi sofuzo esiguquliwe kunina nakuyise).
• Kunethuba elingu-50% lokuthi ingane izoba nomthwali ongenazimpawu, njengabazali.
• Kunethuba elingama-25% lokuthi ingane ngeke izuze leli jini eliguquliwe nhlobo futhi izoba ingane ephilile ngokuphelele.

Yiziphi izimpawu zokuntuleka kwe-MCAD?

Lezi zimpawu zivame ukuvela ngesikhathi sobuntwana noma ebuntwaneni, ikakhulukazi lapho ingane igula ngenxa yomkhuhlane noma ukuhlanza futhi ingakwazi ukudla, noma lapho igebe phakathi kokudla landa.

Ake sihlukanise lezi zimpawu zibe izinhlobo ezimbili.

Odokotela basithola kanjani lesi sifo?

Into engcono kakhulu lapha ukuthi kulezi zinsuku, lapho kuzalwa umntwana , kuzalwa umntwana osanda kuzalwa.Ukuhlolwa kwezinsana kuvumela ukutholakala kusenesikhathi kwezifo eziningi, njengokuntuleka kwe-MCAD. Lokhu kuhlolwa kwenziwa kusetshenziswa amaconsi ambalwa egazi athathwe esithendeni somntwana ezinsukwini ezimbalwa ngemva kokuzalwa.

Lokhu kusho ukuthi ingane ingatholakala inalesi simo ngaphambi kokuba ibonise noma yiziphi izimpawu. Lokhu kuyinto engasindisa impilo yayo.

Uma ukuhlolwa kosana olusanda kuzalwa kuphakamisa ukusola ngalesi simo, udokotela uzoyala ukuhlolwa okwengeziwe ukuze kuqinisekiswe.

• Ukuhlolwa kofuzo
• Ukuhlolwa kwegazi nomchamo

Ngemva kokuqinisekisa lesi sifo, udokotela uzonikeza ingane ukwelashwa okudingekayo kanye neseluleko.

Yiziphi izindlela zokwelapha lokhu? Ungamnakekela kanjani umntwana?

Ukwelapha ukuntuleka kwe-MCAD kuhilela kakhulu ukuphatha ukudla kwengane . Into ebaluleke kakhulu lapha ukugcina amazinga amandla engane. Okusho ukuthi, ingane akufanele ihlale isikhathi eside ingadli .

Nazi ezinye izinto ezibalulekile okufanele uzicabangele ngesikhathi sokwelashwa nokuphathwa.

• Nikeza ukudla njalo: Ungavumeli ingane yakho ilambe amahora amaningi. Ngaphezu kokudla okuyinhloko, kufanele uyinike ukudla okulula. Akukuhle ukuhlala ungadli isikhathi eside, ngisho nasebusuku. Uma ingane yakho isencane, kungadingeka uyivuse ebusuku ukuze uyinike ubisi nokudla.
• Ukudla okucebile ngama-carbohydrate: Faka ukudla okunesitashi njengelayisi, isinkwa, amazambane, amazambane amnandi, kanye nokusanhlamvu ekudleni kwengane yakho. Lokhu kunikeza umzimba amandla owadingayo kalula.
• Nciphisa ukudla okunamafutha amaningi: Lokhu akusho ukuthi unciphise amafutha ngokuphelele, kodwa kuwumqondo omuhle ukunciphisa izinto ezifana nokudla okunamafutha amaningi nokuthosiwe.
• Izithako ze-Carnitine: Ezinye izingane zingase zinikezwe isithako esibizwa ngokuthi ``Carnitine'' ngudokotela wazo. Lokhu kusiza umzimba ukuguqula amafutha abe amandla.

Wenzani uma ugula?

Lokhu kuyinto ebaluleke kakhulu. Uma ingane enesifo se-MCAD iba nesifo esifana nomkhuhlane, ukuhlanza, noma isifo sohudo, kuyingozi kakhulu. Ngoba ngaleso sikhathi ingane ngeke idle, futhi amandla omzimba azoncipha ngokushesha.

Ngezinye izikhathi, uma ingane kufanele ihlinzwe, kuzodingeka izile ukudla ngaphambi kwenqubo. Ezimweni ezinjalo, udokotela uzoyingenisa esibhedlela ingane ayinike i-glucose saline (i-IV fluids) ukuze ihlale inamanzi.

Kufanele ngimbone nini udokotela? Kufanele ngiye nini e-ETU?

Uma ingane yakho itholakale inesifo sokuntuleka kwe-MCAD, bona udokotela wakho ngokushesha ezimweni ezilandelayo:

• Uma ingane ingadli ngendlela evamile noma idla ukudla okungafanele.
• Uma ingane inomkhuhlane, iqhubeka nokulala ngokweqile, noma ibonakala ikhathele.
• Uma ingane iqhubeka nokuhlanza.

Isikhathi sokuya e-Emergency Treatment Unit (ETU) ngokushesha:

• Uma ingane yakho inesifo sokuwa, yiyise ekamelweni lezimo eziphuthumayo esibhedlela esiseduze (i-ETU) ngaphandle kokuchitha isikhathi. Ukuwa kungenye yezinkinga ezinkulu zalesi sifo.

Ingabe ingane enalesi sifo ingaphila impilo evamile?

Yebo impela! Yilokho okubaluleke kakhulu futhi okwanelisayo lapha. Uma lesi sifo sitholakala kusenesikhathi ngokuhlolwa kwezinsana ngesikhathi sokuzalwa futhi ukudla kuphathwa njengoba nje kuyalelwe udokotela, izingane eziningi zingaphila impilo enempilo ngokuphelele, evamile ngaphandle kwezinkinga.

Kodwa-ke, uma lesi sifo singatholakali, okungukuthi, uma singelashwa lapho kuvela izimpawu, phakathi kuka-20%-25% wezingane zingaba nokukhubazeka kwesikhathi eside noma ngisho nokufa. Yingakho ukuhlolwa kwezinsana kanye nokutholakala kwalesi sifo kusenesikhathi kubaluleke kangaka.