Ingabe lokhu kungukwanda kwe-ammonia emzimbeni wakho? Ake sifunde ngokushoda kwe-OTC!

Cishe uke wezwa ukuthi uma imizimba yethu intula ezintweni ezithile, kungavela izinkinga ezinkulu. Yilokho okushiwo yilokhu kuntuleka kwe-OTC. Cabanga ukuthi bekuzokwenzekani uma isibindi sakho besintula i-enzyme edingekayo ukuze sisebenze kahle? Nakuba lokhu kuyindaba engathi sína, kunezindlela zokwelapha ezinhle. Ake sixoxe ngalokhu ngokuningiliziwe, akunjalo?

Kuyini ngempela lokhu kuntuleka kwe-OTC?

Kalula nje, ukuntuleka kwe-OTC kusho ukuthi isibindi sakho asikwazi ukukhiqiza kahle i-enzyme ebizwa ngokuthi i-Ornithine Transcarbamylase (OTC). Le enzyme ye-OTC ibaluleke kakhulu ngoba isiza ukususa into enobuthi ebizwa ngokuthi i-ammonia egazini lethu. Ngakho-ke uma le enzyme iphansi, i-ammonia iqala ukuqoqana emzimbeni. Empeleni lokhu kuyisifo somjikelezo we-urea .

Manje ake sibone ukuthi lokhu kwenzeka kanjani . Uma sidla iphrotheni, amabhaktheriya asemathunjini ethu ayaphula iphrotheni futhi akhiqize i-ammonia njengomkhiqizo ongcolile. Bese isibindi sethu sithatha le ammonia bese siyiguqula ibe yi-urea enqubweni ebizwa ngokuthi umjikelezo we-urea. Yilokho okwenziwa yi-enzyme ye-OTC. Bese izinso zethu zihlunga le urea egazini bese ziyikhipha njengomchamo. Uyaqonda? Ngakho-ke uma i-OTC isihambile, yonke le nqubo iyaphela.

Yiziphi izinhlobo eziyinhloko zalesi simo?

Ukuntuleka kwe-OTC kuhlukaniswe kakhulu ngezinhlobo ezintathu, kuye ngokuthi kuthatha isikhathi esingakanani ukuthi izimpawu zivele:

• Uhlobo lwezinsana ezisanda kuzalwa: Lolu uhlobo olubi kakhulu. Izimpawu zivela ezinsukwini zokuqala ezingu-30 zokuzalwa. Lezi zingane zidinga ukwelashwa ngokushesha.
• Uhlobo oluphakathi: Lokhu kuvame ukuthinta izingane ezisukela enyangeni eyodwa kuya eminyakeni engaba ngu-16 ubudala.
• Uhlobo lokuqalisa sekwephuzile: Lokhu kungavela ngemva kweminyaka engu-16, ngezinye izikhathi kuze kube sekwephuzile eminyakeni engu-60. Lolu uhlobo oluncane kakhulu kwezinye izinhlobo ezimbili.

Ubani onamathuba amaningi okuthola ukuntuleka kwe-OTC?

Ukuntuleka kwe-OTC empeleni kuyisifo esingavamile kakhulu . Kodwa-ke, yisona esivame kakhulu ezinkingeni zomjikelezo we-urea. Ngokusho kwabacwaningi, kungathinta umuntu oyedwa kwabayi-14,000 noma oyedwa kwabayi-80,000 emhlabeni jikelele. Ngaphezu kwalokho, lesi simo sithinta abafana kaningi futhi sibi kakhulu .

Ziyini izimpawu zokuntuleka kwe-OTC?

Izimpawu zalesi sifo ziyahlukahluka kuye ngesikhathi sokuqala kwaso. Ezinsaneni ezisanda kuzalwa, izimpawu zimbi kakhulu. Lezi zimpawu zivame kakhulu ngemva kokudla ukudla okunamaphrotheni amaningi.

Izimpawu ezinganeni ezisanda kuzalwa

Uma umntwana enalesi simo, ungase ubone izinto ezinjengalezi:

• Bayala ukudla noma ukuphuza, futhi abaphuzi ubisi.
• Ukuhlanza njalo.
• Ukukhathazeka kakhulu, uhlala ekhala.
• Ukuzizwa ulele njalo futhi ungenampilo (`Ukudinwa`).
• Kungase kube nokuquleka.
• Umzimba ongenampilo, njengendwangu (`Hypotonia`).
• Isibindi singavuvukala futhi sikhule (`Hepatomegaly`).

Cabanga ukuthi umama angasaba kangakanani uma into efana nale ingenzeka enganeni esanda kuzalwa . Yingakho kubaluleke kakhulu ukuqaphela lezi zimpawu.

Izimpawu ezinganeni ezisukela enyangeni eyodwa kuya eminyakeni eyi-16 ubudala

Izingane ezingaphezu kwenyanga eyodwa ubudala nangaphansi kweminyaka engu-16 ubudala nazo zingase zibe nezimpawu ezibalwe ngenhla. Ngaphezu kwalokho, ungase ubone nalezi:

• Ukudideka, isimo sokudideka kwengqondo.
• Ukusangana, njengokubona izinto ezingekho.
• Ukulahlekelwa ibhalansi kanye nokungakwazi ukuhamba kahle (`Ataxia`).

Izimpawu kubantu abadala

Uma lesi simo sivela kumuntu omdala, kungase kube nezimpawu ezengeziwe, ngaphezu kwezimpawu ezinganeni ezincane okukhulunywe ngazo ekuqaleni:

• Isicanucanu.
• Ikhanda elibuhlungu njenge-migraines.
• Ubunzima bokukhuluma, inkulumo engacacile (i-Dysarthria).
• Ukubona izinto ezingekho.
• Ukubona okufiphele noma okunye ukuphazamiseka kokubona.

Kungani lokhu kuntuleka kwe-OTC kwenzeka? Ziyini izimbangela?

Ukuntuleka kwe-OTC kuyisifo sofuzo . Lokhu kusho ukuthi kubangelwa izinguquko ku-DNA yethu. Abacwaningi sebethole izinguquko ze-DNA ezingaba ngu-400 ezingabangela lesi sifo. Kodwa-ke, kwezinye izimo (cishe amaphesenti angu-20 amacala), kungabangelwa noshintsho lwe-DNA olungenakutholakala ngokuhlolwa.

Kunezindlela ezimbili eziyinhloko lapho lezi zinguquko ze-DNA (`DNA`) zingenzeka khona:

• Okuzuzwe njengefa: Ingane ingazuza lolu guquko lwe-DNA kunina. Uma lokhu kwenzeka, umfana uzoba nalesi sifo. Uma intombazane ingumhlinzeki walesi sifo, izothinteka. Lokhu kuyahlukahluka kuye ngamazwe, kodwa ngokuvamile kuba phakathi kuka-36% no-80% wamacala.
• Uhlobo olungazuzwa njengefa (de novo): Kulesi simo, umntwana akazuzi ifa loshintsho lwe-DNA. Lokhu kusho ukuthi ushintsho lwenzeka ngokungahleliwe ngesikhathi umntwana esakhula esibelethweni sikanina.

Ukuntuleka kwe-OTC okuzuzwe njengefa kuyisimo esixhumene no-X . Lokhu kusho ukuthi abesifazane kuphela abathwali futhi ababi naso sonke lesi sifo. Kodwa-ke, basengaba nezimpawu. Ucwaningo lukhombisile ukuthi phakathi kuka-10% no-20% wabesifazane abathwali bazoba nezimpawu ngesikhathi esithile empilweni yabo.

Yiziphi izinkinga ezingaba khona ngenxa yokuntuleka kwe-OTC?

Ukuntuleka kwe-OTC kungabangela amazinga aphezulu e-ammonia egazini. Leli zinga eliphakeme le-ammonia egazini (i-Hyperammonemia) liyingozi ebuchosheni . Lokhu kungaholela ekuphazamisekeni kwe-metabolic encephalopathy.Uma lokhu kuba kubi kakhulu noma kuqhubeka isikhathi eside, kungavela izinkinga ezinkulu, njenge:

• Ukukhubazeka kwengqondo kanye nokubambezeleka kokukhula.
• Izifo ze-neurological ezifana ne-cerebral palsy.
• Ukuwela e-coma kusho ukulahlekelwa ingqondo.
• Ngeshwa, ngisho nokufa kungenzeka.

Lezi zinkinga zivame kakhulu, futhi zinzima kakhulu, ezinganeni ezisanda kuzalwa ezinesifo se-OTC.

Ukuntuleka kwe-OTC kungaba yingozi kakhulu ngesikhathi sokukhulelwa. Kodwa-ke, kungenzeka ukuphatha lesi simo ngesikhathi sokukhulelwa futhi ube nomntwana onempilo. Uma unesifo se-OTC, noma uma othile emndenini wakho enomlando walesi simo, kungumqondo omuhle ukukhuluma nodokotela wakho wezifo zabesifazane kanye nodokotela wezifo zabesifazane (`Ob/Gyn`). Bangasebenzisana nodokotela abaphatha ukuntuleka kwe-OTC yakho ukuze bahlele ukunakekelwa okudingayo.

Odokotela bakuthola kanjani (bakuthola kanjani) ukuntuleka kwe-OTC?

Ukuntuleka kwe-OTC kutholakala kakhulu ngokuhlolwa kwelebhu, ikakhulukazi ukuhlolwa kwegazi kanye nokuhlolwa komchamo. Ezimweni eziningi, kungatholakala ngaphambi kokuba umntwana azalwe ngokuhlolwa kwe-DNA. Kodwa-ke, yize ukuntuleka kwe-OTC kuyisimo sofuzo, lokhu kuhlolwa kungase kungakwazi ukubona zonke izinguquko ze-DNA ezingayibangela. Lokhu kungenxa yokuthi kunezinhlobonhlobo zezinguquko ze-DNA ezingayibangela.

Kuye ngemithetho nemigomo yezwe ohlala kulo, kungase kube nohlelo lokuhlola zonke izingane ezisanda kuzalwa ukuthi azinawo yini ukuntuleka kwe-OTC. Ezindaweni ezinjalo, amathuba okuthola lesi sifo kusenesikhathi aphezulu.

Kodwa-ke, ezindaweni lapho izindlela ezinjalo zokuhlola ezijwayelekile zingatholakali khona, kungaba nzima ngisho nakodokotela abanolwazi ukuxilonga lesi simo ngemva kokuzalwa komntwana. Lokhu kungenxa yokuthi izimpawu azicacile kahle ezigabeni zokuqala futhi zingafana nezanoma yisiphi esinye isifo. Ezimweni ezimbi kakhulu, ubuthi be-ammonia bungabangela ukulimala kobuchopho ngaphambi kokuba odokotela bathole lesi simo.

Yiziphi izindlela zokwelapha ukuntuleka kwe-OTC?

Izindaba ezinhle ukuthi kunezindlela zokwelapha ezinhle zokuntuleka kwe-OTC. Kunamaphuzu ambalwa abalulekile okufanele uwakhumbule lapho welapha lokhu:

• Ukunciphisa amazinga e-ammonia egazini: Esimweni esiphuthumayo, i-dialysis ingasusa ngokushesha i-ammonia egazini.
• Izindlela zokwelapha ezihlukile: Kunemithi yokususa i-nitrogen. Le mithi isebenza ngokubamba i-nitrogen, iyicubungule ngezinye izindlela, futhi ivimbele ukwakheka kwe-ammonia. Izibonelo zifaka phakathi imithi efana ne-Sodium Phenylacetate kanye ne-Sodium Benzoate.
• Izinguquko ekudleni: Ukunciphisa nokuphatha ukudla okudliwayo ngamaprotheni kubalulekile ukugcina amazinga e-ammonia egazini esezingeni eliphephile.Ukuze wenze lokhu, udinga ukubeka phambili ukuthola amakhalori avela kuma-carbohydrate ('ama-carbs') namafutha ('amafutha').
• Ukwengezwa: Ama-amino acid abalulekile angatholakali kumaprotheni kumele athathwe njengezithasiselo.
• Ukuqapha amazinga e-ammonia egazini: Ukuhlolwa kwegazi njalo kungasiza ekutholeni amazinga e-ammonia egazini ngaphambi kokuba abe phezulu ngendlela eyingozi.

Uma ukuntuleka kwe-OTC kutholakala ngaphambi kokuba umntwana azalwe, kungenzeka ukuthi kuqalwe ukwelashwa kwengane esibelethweni. Ukunikeza umama le mithi ehlukile ngaphambi nje kokuba umntwana azalwe kungasiza ekugcineni amazinga e-ammonia engane ezingeni eliphephile ngemva kokuzalwa.

Ingabe ukuntuleka kwe-OTC kungalapheka ngokuphelele?

Yebo, ikhona indlela yokwelapha ukuntuleka kwe-OTC. Lokho ukufakelwa kwesibindi . Kulokhu, isibindi sakho esinesifo siyasuswa bese kufakelwa isibindi esinempilo. Leso sibindi singenza i-enzyme ye-OTC. Ngemva kokufakelwa kwesibindi, ungadla ukudla okuvamile nokunomsoco futhi ngeke kudingeke uthathe imithi yokwehlisa i-ammonia.

Ngeshwa, ukufakelwa kwesibindi akuvamile kakhulu kulesi sifo ngezizathu ezahlukahlukene. Futhi, abantu abaye bafakelwa isibindi kumele bathathe imithi yokucindezela amasosha omzimba impilo yabo yonke ukuze bavimbele ukwenqatshwa kwesitho esifakelwe. Udokotela wakho angakutshela okwengeziwe ngokufakelwa kwesibindi nokuthi kungakuthinta kanjani.

Ukwelashwa kwezakhi zofuzo ngenxa yokuntuleka kwe-OTC nakho kuyaphenywa okwamanje. Lokhu kwelashwa kungaba yindlela yesikhathi esizayo esikhundleni sokufakelwa isibindi salesi sifo.

Yini ongayilindela uma uphila nokuntuleka kwe-OTC?

Lokho ongakulindela ngokuntuleka kwe-OTC kuyahlukahluka kuye ngokuthi isimo sibi kangakanani. Uma isimo sibi kakhulu, kulapho ungadla khona amaprotheni amancane ngokuphepha. Abantu abaningi abanesifo se-OTC bakhetha ukudla ukudla kwemifino ngisho nangaphambi kokuba baxilongwe, ngoba kulula kubo. Udokotela wakho uzokuqondisa ukuthi ungadla amaprotheni angakanani nokuthi ungawaqapha kanjani.

Sekukonke, ukuba nokuntuleka kwe-OTC kungaba nomthelela omkhulu empilweni yakho. Amazinga aphezulu e-ammonia egazini angandisa ingozi yezinkinga ezifana nokukhubazeka kwengqondo. Yingakho kubaluleke kakhulu ukugcina amazinga e-ammonia ephansi.

Kodwa-ke, ngokuqapha, ukwelashwa, kanye nokudla okunamaphrotheni aphansi, ukuntuleka kwe-OTC kuyisimo esilawuleka kakhulu. Kubalulekile ukuqapha amazinga e-ammonia egazini lakho njalo ukuqinisekisa ukuthi awakhuphuki. Uma amazinga e-ammonia egazini lakho ekhuphukile, ukwelashwa kungasiza ekwehliseni lawo.

Ukuntuleka kwe-OTC kuhlala isikhathi esingakanani?

Ukuntuleka kwe-OTC kuyisimo sokuzalwa , okusho ukuthi uzalwa naso, futhi sihlala impilo yonke. Ukufakelwa isibindi yikona kuphela ikhambi elitholakalayo.

Liyini ikusasa lomuntu onesifo se-OTC?

Ukubikezela komuntu onesifo se-OTC kuncike kakhulu ekutheni izimpawu ziqala nini ukubonakala. Ucwaningo lwango-2020 lusikisela ukuthi iziguli ezitholakala ziseminyakeni ephakathi nendawo kanye nendala zibikezela kangcono. Izinga lokufa kwazo lisukela ku-8% kuya ku-13%.

Izinsana ezisanda kuzalwa zivame ukuba yizimo ezimbi kakhulu, futhi izinga lokufa nalo liphezulu. Kodwa-ke, lelo zinga lokufa liphansi kakhulu manje kunaseminyakeni edlule. Ucwaningo lweminyaka engama-30 olwenziwe kusukela ngo-1971 kuya ku-2011 luthole ukuthi izinga lokufa kwezinsana ezisanda kuzalwa lalingu-74%. Kodwa-ke, ucwaningo olulandelayo olwenziwe kusukela ngo-2001 kuya ku-2013 luthole ukuthi izinga lokufa lehle laya ku-43%. Lokhu kukhombisa ukuthi kube nomehluko omkhulu kangakanani ngokuthuthuka kwesayensi yezokwelapha.

Ingabe ikhona indlela yokuvimbela ukuntuleka kwe-OTC?

Ayikho indlela yokuvimbela ukuntuleka kwe-OTC. Kodwa-ke, ungathola ukwelulekwa ngofuzo ngaphambi kokuba ube nezingane. Nakuba lokhu kungeke kuvimbele lesi sifo, kungakusiza uqonde amathuba okuba izingane zakho zisithole njengefa.

Kunini lapho kudingeka uye esibhedlela?

Uma wena noma ingane yakho ninezimpawu ze-ammonia ephezulu egazini (`ammonia`), kufanele niye esibhedlela noma egumbini lezimo eziphuthumayo ngokushesha . Uma i-ammonia yegazi (`ammonia`) ihlala isikhathi eside, kulapho ingozi yokulimala kobuchopho unomphela iba nkulu khona. Ngakho-ke akuwona umqondo omuhle ukulibala.

Yimiphi imibuzo ebalulekile okufanele uyibuze udokotela wakho?

Uma ubona udokotela wakho, kuwumqondo omuhle ukubuza imibuzo efana nale:

• Ingabe ukuntuleka kwami ​​kwe-OTC kubangelwa ukuguquka kwezakhi zofuzo okutholakale njengamanje?
• Ingabe kukhona amanye amalungu omndeni wami okufanele ahlolwe ukuntuleka kwe-OTC?
• Ingakanani inani eliphezulu leprotheyini engingalithatha ngosuku?
• Ngidinga ukwelashwa okunjani?
• Yiziphi izithasiselo okufanele ngizithathe?
• Yiziphi izimpawu ezidinga ukwelashwa okuphuthumayo?

Okokugcina, izinto ezimbalwa okufanele uzikhumbule

Kungakhathaliseki ukuthi lesi sifo sithinta wena noma ingane yakho, kuvamile ukuzwa imizwa ehlukahlukene uma ufunda ukuthi lesi yisimo sofuzo sokuphila konke. Ungase uzizwe ukwesaba, ukukhathazeka, kanye nentukuthelo. Yonke le mizwa iyaqondakala.

Kodwa kudingeka ukhumbule, ukuntuleka kwe-OTC akulona iphutha lakho , futhi kuvame ukubangelwa yizinto ezingaphezu kwamandla akho.

Nakuba ukuntuleka kwe-OTC kuyisimo esibucayi, intuthuko kwezesayensi yezokwelapha yenze kwaba lula kakhulu ukwelapheka kunaseminyakeni embalwa edlule. Ngokuqapha nokwelashwa njalo, lesi simo singaphathwa kakhulu. Kukhona nobufakazi obukhulayo bokuthi ukufakelwa isibindi kungelapheka lesi sifo. Uma unemibuzo noma udinga usizo endleleni, ungakhohlwa ukuthembela eqenjini lakho lezokwelapha. Bahlala bekhona ukukuqondisa nokukusekela.

Ukuntuleka kwe - OTC, i-ammonia, isibindi, umjikelezo we-urea, izifo zofuzo, amaprotheni, izifo zezingane