Masifunde ngeempazamo zokuzalwa zeMetabolism (IEM) ngokulula!

Ngaba wakha wazibuza ukuba izinto esizityayo nesiziselayo zinika njani imizimba yethu amandla kwaye zakha imizimba yethu? Yinkqubo emangalisayo kakhulu, akunjalo? Kodwa ngamanye amaxesha, iziphene ezincinci kule nkqubo, oko kukuthi, iziphene, zinokwenzeka ukususela ekuzalweni. Yiloo nto siza kuthetha ngayo namhlanje. Ungakhathazeki, oku kungabonakala ngathi yingongoma enzima, kodwa ndiza kuyichaza ngendlela elula onokuyiqonda.

Zithini ezi zinto zibizwa ngokuba zii-Inborn Errors of Metabolism (IEM)?

Ngamafutshane, imetabolism yinkqubo yeekhemikhali eguqula ukutya esikutyayo kube ngamandla kwaye isuse inkunkuma. Ifana nomzi-mveliso omncinci ngaphakathi emizimbeni yethu. Ukuze lo mzi-mveliso usebenze kakuhle, kufuneka ube nayo yonke into oyifunayo.

Ngoku, ii-Inborn Errors of Metabolism (IEM) , ngamanye amaxesha ezibizwa ngokuba zizifo ze-metabolic ezizuzwe njengelifa, liqela leemeko apho inkqubo yeekhemikhali endikhankanyileyo ingenziwanga kakuhle. Kufana naxa umatshini kumzi-mveliso, okanye umntu osebenza kuwo, engasebenzi kakuhle. Oku kwenzeka ngenxa yokuba ii-enzyme ezithile, eziziiproteni ezikhethekileyo ezinceda ezi nkqubo zeekhemikhali, aziveliswanga kakuhle, okanye ngenxa yokuba azisebenzi kakuhle.

Zeziphi iintlobo zeempazamo ezikhoyo?

Enyanisweni, kukho amakhulu eentlobo zeempazamo zemetabolism ezizalwa nazo. Rhoqo, ezi zifo zibizwa ngegama le-enzyme engasebenzi kakuhle. Makhe sijonge ezinye zeentlobo eziqhelekileyo:

• Iingxaki zokugcina inkunkuma ngeLysosomal: Khawuthelekelele ukuba imizimba yethu ineefektri ezincinci ezicubungula inkunkuma. Ngamanye amaxesha, kwizifo ezibizwa ngokuba yi "Lysosomal storage disorders", ezo fektri azisebenzi kakuhle. Emva koko, inkunkuma enobuthi ekufuneka isuswe iqokelelana emzimbeni. Kufana nenkunkuma eqokelelana endlwini yakho ukuba ilori yenkunkuma ayifiki. Umzekelo, izifo ezifana ne "Hurler syndrome," "Gaucher disease," kunye ne "Tay-Sachs disease," ziwela kolu didi.

• Isifo somchamo wesiraphu yeMaple: Le yimeko apho ii-amino acid, iibhloko zokwakha iiproteni, ziqokelelana emzimbeni. Oku kungonakalisa inkqubo yemithambo-luvo kwaye kubangele ukuba umchamo unuke njengesiraphu ye-maple. Le yindlela esi sifo esafumana ngayo igama laso.

• Isifo sokugcina iGlycogen: Oku kwenzeka xa umzimba ungakwazi ukugcina iswekile (iglucose) ngendlela efanelekileyo ekutyeni esikutyayo. Oku kunokubangela ukuba iswekile yegazi ibe sezantsi.

• Izifo zeMitochondrial:IiMitochondria zizakhiwo ezincinci ezinceda iiseli emizimbeni yethu ukuba zivelise amandla. Kwezi zifo, ezi mitochondria azisebenzi kakuhle, ngoko ke iiseli azikwazi ukuvelisa amandla eziwadingayo. Oku kunokuchaphazela ukusebenza kwamalungu amaninzi abalulekileyo, njengengqondo, izihlunu, isibindi kunye nezintso.

• Iingxaki zePeroxisomal: Oku kufana nezifo zokugcina i-lysosomal. Apha, iityhefu eziyingozi ziyaqokelelana emzimbeni.

• Iingxaki zemetabolism yesinyithi: Imizimba yethu inee-metal ezincinci ezahlukeneyo. Nangona kunjalo, kwezi zifo, ezinye ii-metal ziqokelelana emzimbeni kwaye zibe yityhefu. Umzekelo, kwisifo sikaWilson, ubhedu luqokelelana kakhulu, kwaye kwi-hemochromatosis, i-iron iqokelelana kakhulu.

• Ingxaki yomjikelo we-urea: Oku kwenzeka xa umzimba ungakwazi ukususa ngokufanelekileyo into enobuthi ebizwa ngokuba yi-ammonia, eqokelelana egazini ize ibangele iingxaki.

Ngubani ochaphazeleka kakhulu zezi meko?

Nabani na angaphuhla ezi mpazamo zokuzalwa zemetabolism (IEMs). Oku kungenxa yokuba zibangelwa lutshintsho kwiijini zethu, okanye i-DNA. Izizathu zemfuza ezichaphazela uhlobo ngalunye lwe-IEM zahlukile. Nangona kunjalo, ukuba umntu kusapho lwakho unale meko, usemngciphekweni omkhulu wokufumana into efana nale.

Zixhaphake kangakanani ezi zinto?

Ehlabathini lonke, kuqikelelwa ukuba malunga nesinye kwiintsana ezingama-2,500 ezizalwayo sinokuba nolu hlobo lwesiphene se-metabolic esizalwa naso. Oku kuthetha ukuba ezi azinqabile kangako.

Le ngxaki ye-metabolic iwuchaphazela njani umzimba?

Ezi meko ze-IEM zichaphazela kakhulu amandla okusebenzisa ngokufanelekileyo ezi zondlo zilandelayo esizifumana ekutyeni esikutyayo nesikuselayo:

• Iicarbohydrate (izitatshi kunye neeswekile)
• Iswekile (iglucose)
• Iiproteni
• Amafutha

Ngoko ke, iimpawu zezi zifo zinokuchaphazela iinkqubo ezahlukeneyo zamalungu omzimba. Zinokuchaphazela nokukhula komntwana, uphuhliso lwengqondo, kunye nokukwazi ukwenza imisebenzi yemihla ngemihla .

Zithini iimpawu zoku?

Iimpawu zezi ngxaki ze-metabolic zokuzalwa zingahluka ukusuka kumntu ukuya komnye. Ubunzima besifo buyahluka ukusuka kumntu ukuya komnye. Ezinye iimpawu eziqhelekileyo ziquka:

• Ukulibaziseka kokukhula: Oku kuthetha ukuba izakhono zengqondo nezomzimba aziphuhli ngendlela efanelekileyo ngokweminyaka.
• Ukunciphisa umzimba okanye ukutyeba.
• Ukungadeli ngokwaneleyo (Imingeni yokukhula).
• Ukuxhuzula : Oku kuthetha iimeko ezifana nokuxhuzula.
• Ukungatyi ukutya .
• Udiniwe, uhlala ediniwe .
• Ivumba elingaqhelekanga elivela kumchamo, ukubila, okanye ukuphefumla .
• Intlungu yesisu, ukuhlanza.

Khumbula, musa ukucinga ukuba unesifo ngenxa nje yokuba unesinye okanye ezimbini zezi mpawu. Nangona kunjalo, ukuba ezi mpawu ziyaqhubeka, ingakumbi kumntwana omncinci, kubalulekile ukufuna ingcebiso kagqirha. Ezinye zezi meko zinokuba yingozi ebomini ukuba azinyangwa ngokufanelekileyo.

Zithini izizathu zoku?

Eyona nto ibangela ezi ziphene ze-metabolic defects (IEMs) kukuguquka kwezakhi zofuzo . Oku kwenzeka ngexesha le-embryonic, oko kukuthi, xa umntwana esesibelekweni, xa iiseli zahlukana kwaye zenze ezintsha.

Ezinye zezakhi zofuzo emizimbeni yethu ziyalela iiproteni ukuba zenze ii-chemical reactions ezifunekayo kwinkqubo ye-metabolism emva kokutya. Iiproteni ezikhethekileyo ezibizwa ngokuba zii-enzymes zenza ezi chemical reactions.

Ngoku, emzimbeni womntu onesi simo se-IEM, ezo enzyme azifumani miyalelo ziyifunayo ukuze zenze umsebenzi wazo ngokufanelekileyo. Yiyo loo nto ezi mpawu zisenzeka.

Uzibona njani ezi zinto?

Uninzi lwexesha, oogqirha bayazichonga ezi ngxaki zemetabolism zokuzalwa ngaphambi kokuba umntwana azalwe (ukuhlolwa kwangaphambi kokuzalwa) okanye ngexesha lokuhlolwa kosana olusandul’ ukuzalwa . ESri Lanka, zonke iintsana ezisandul’ ukuzalwa ziyavavanywa ezinye zezi zifo. Kwabanye abantu, iimpawu zinokubonakala nasemva kokuba sele bekhulile, kwaye kulapho ke isifo sichongiweyo khona.

Zeziphi iimvavanyo ezenziwayo koku?

Ngenxa yokuba kukho iintlobo ezininzi ze-IEM, kufuneka uvavanyo olwahlukeneyo ukuze kufunyanwe isifo ngokuchanekileyo. Ezinye zazo zezi:

• Uvavanyo lwe-metabolism: Oku kuquka ukuthatha isampuli yegazi okanye yomchamo kunye nokujonga iipateni kwii-amino acids (izakhiwo zeeproteni), amafutha, kunye namanqanaba eglucose (iswekile). Oku kunokunceda ukuqikelela uhlobo lwesifo.
• Uvavanyo lwemfuza: Apha, kuthathwa isampuli yegazi okanye isampuli yamathe angaphakathi emlonyeni aze avavanyelwe utshintsho kwiimfuza.
• I-Amniocentesis: Olu luvavanyo olwenziwa ngexesha lokukhulelwa. Isampuli encinci yolwelo lwe-amniotic olujikeleze umntwana esibelekweni iyathathwa ize ihlolwe ukuba ayinazo na iingxaki zemfuza.
• Uvavanyo lweglucose: Oku kwenzelwa ukujonga amanqanaba eswekile egazini lakho. Oku kwenzelwa ukuba uneempawu ezifana nokudinwa rhoqo, ukuziva ubuthathaka, okanye ukuba nesithuthwane.
• Uvavanyo lwamehlo: Ezinye iimeko ze-IEM zinokuchaphazela umbono, ngoko ke kuyacetyiswa ukuba uhlolwe amehlo.

Zithini iindlela zonyango zoku?

Unyango lweengxaki ze-metabolic zokuzalwa luyahluka ngokuxhomekeke kuhlobo lwesifo. Unyango oluphambili luquka:

• Utshintsho kwindlela yokutya: Ekubeni umzimba ungakwazi ukusebenzisa kakuhle izondlo ezikukutya okuthile, ukususa ezo zinto ekutyeni kunokunceda ukulawula iimpawu. Oku ngamanye amaxesha kunokuba yinkqubo yobomi bonke.
• Ukunika amayeza:Ugqirha wakho unokukunika amayeza athile okunceda imetabolism yakho isebenze kakuhle. La mayeza asenokuba zizinto ezithatha indawo yeeenzyme okanye ezinye izinto ezithatha indawo yeekhemikhali.
• I-Dialysis: Le yinkqubo esusa ubuthi egazini. Ingafuneka kwezinye iimeko ezingxamisekileyo.
• Ukufakelwa amalungu omzimba: Kwiimeko ezinzima ze-IEM, ukufakelwa isibindi, umzekelo, kunokufuneka.

Iindidi zamayeza anikiweyo

Iindidi zamayeza anikwayo ziyahluka ngokuxhomekeke kuhlobo lwesifo. Eminye imizekelo yile:

• Isisombululo seGlucose `(Isisombululo seGlucose)`
• I-Insulin `(I-Insulin)`
• I-sodium benzoate okanye i-sodium phenylacetate
• Izongezo ze-amino acid
• Ukutshintshwa kwe-enzyme
• Izongezo zokutya

Zithini iziphumo ebezingalindelekanga ukuba azinyangwa?

Ukuba ezi ziphene ze-metabolic zokuzalwa azilawulwa kakuhle, umzimba awukwazi ukusebenzisa kakuhle ezinye izinto zokutya, kwaye izinto ezinobuthi zinokuqokelelana egazini, nto leyo ekhokelela kwiimeko ezinzulu ezifana nezi:

• Ukuba nesithukuthezi (Ukuxhuzula)
• Ukungasebenzi kakuhle kwamalungu omzimba (umz. isibindi, izintso)
• Umonakalo wobuchopho

Kungoko ke kubaluleke kakhulu ukuchonga ezi zifo ngokukhawuleza nokunyanga ngendlela efanelekileyo.

Ungayiphila njani neempawu?

Xa uphila nezi meko ze-IEM, ngamanye amaxesha unokuziva udiniwe kwaye udiniwe. Xa iimpawu zisiba mandundu, kunokuba nzima ukwenza imisebenzi yemihla ngemihla. Eyona nto ibalulekileyo kukulandela isicwangciso sonyango esinikwa ngugqirha wakho. Kubaluleke kakhulu ukutya kuphela ukutya okufanelekileyo emzimbeni wakho kwaye onokukucubungula ngokufanelekileyo.

Ngamanye amaxesha, kunokuba nzima ukunamathela kukutya okufunwa ngugqirha wakho, ingakumbi ukuba kukutya okunemiqathango kakhulu. Kwiimeko ezinjalo, thetha nogqirha wakho okanye ingcali yesondlo ukuze akuncede uqhelane nale ndlela intsha yokutya.

Ngaba ezi zinto zingathintelwa?

Enyanisweni, ezi ziphene zokuzalwa azinakuthintelwa kuba zibangelwa lutshintsho lwemfuza. Nangona kunjalo, ukuba uceba ukuqala usapho, ungathetha nogqirha wakho malunga neengcebiso zemfuza , kwaye ukuba kuyimfuneko , uvavanyo lwemfuza . Oku kuya kukunceda uqonde umngcipheko wokuba nomntwana onesi sifo semfuza.

Buza kuba njani ubomi kule meko?

Akukho nyango lwezi ngxaki ze-metabolic zokuzalwa (IEMs). Ubukhali beempawu zakho buya kumisela ikamva lakho. Ezinye iimeko ze-IEM zinokuba yingozi kakhulu ukuba iityhefu ziqokelelana egazini ezingenakususwa ngumzimba.

Kodwa,Ukuba esi sifo siqatshelwa kwangethuba, sinyangwa ngokufanelekileyo, kwaye kwenziwe utshintsho olufunekayo kwindlela yokuphila, uninzi lwabantu lunokuphila ubomi obuqhelekileyo nobonwabisayo.

Ufanele uye nini kugqirha?

Ukuba iimpawu zakho ziya zisiba mandundu nangona ulandela isicwangciso sonyango esicetyiswa ngugqirha wakho, qiniseka ukuba ubona ugqirha. Ukuba ukhulelwe, buza ugqirha wakho malunga nokuhlolwa kwangaphambi kokuzalwa kunye nosana olusandul' ukuzalwa okunokukunceda ukujonga ezi ziphene zokuzalwa komntwana wakho.

Eyona nto ibalulekileyo: Ukuba wena okanye umntwana wakho unesithuthwane, yiya kwigumbi likaxakeka lesibhedlele esikufutshane ngoko nangoko.

Imibuzo omawuyibuze ugqirha/ugqirha wakho

Ukuba ufumanisa ukuba wena okanye umntu osapho lwakho unesifo esidluliselwa kwi-metabolic esifana nelifa, ungabuza ugqirha wakho imibuzo efana nale:

• Luhlobo luni lwesifo se-metabolic esizuzwe njengelifa endinaso/umntwana wam?
• Buza kuba njani ubomi ngesi sifo?
• Isicwangciso sam sonyango siza kuquka ntoni?
• Ziziphi iingxaki ekufuneka ndizixhalabele ngakumbi?
• Oku kuyichaphazela njani ubomi bam bemihla ngemihla?
• Ngaba kukho amaqela enkxaso apho unokudibana khona nabanye abantu abanezifo ezingaqhelekanga ezifana nesi?

Okokugqibela, izinto ezimbalwa ekufuneka uzikhumbule

Kulungile, masiphinde sikukhumbuze ngezinye zezinto esithethe ngazo ocinga ukuba zibaluleke kakhulu.

• Iimpazamo zokuzalwa zemetabolism (IEM) ziimeko ezibangelwa zizinto zemfuza eziphazamisana nenkqubo yokuguqula ukutya esikutyayo kube ngamandla nokususa inkunkuma.
• Kukho amakhulu eentlobo zezifo ezifana nale, nganye ineempawu ezahlukeneyo kunye nonyango.
• Ukuxilongwa kwangoko kunye nonyango olufanelekileyo kubalulekile, kuba oku kunokunceda abantu abaninzi baphile ubomi obungcono.
• Utshintsho kwindlela yokutya, amayeza, kwaye ngamanye amaxesha nezinye iindlela zonyango ezithile zinokunceda ekulawuleni ezi zifo.
• Ukuba unamathandabuzo okanye imibuzo, ungoyiki ukuthetha nogqirha wakho.

Ndiyathemba ukuba olu lwazi luza kukunceda. Khumbula, awuwedwa. Kukho oogqirha, iingcali zezondlo, kunye namaqela enkxaso ukunceda abo baphila nezi meko.

Iingxaki zemetabolism , izifo zemfuza, ii-enzymes, ukugaya ukutya, izifo zabantwana, uvavanyo lwemfuza, imetabolism