Ake sifunde ngamaphutha okuzalwa e-Metabolism (IEM) ngamagama alula!

Wake wazibuza ukuthi izinto esizidlayo nesiziphuzayo zinika kanjani imizimba yethu amandla futhi zakha imizimba yethu? Kuyinqubo emangalisayo kakhulu, akunjalo? Kodwa ngezinye izikhathi, amaphutha amancane kule nqubo, okungukuthi, amaphutha, angenzeka kusukela ekuzalweni. Yilokho esizokhuluma ngakho namuhla. Ungakhathazeki, lokhu kungase kubonakale njengesihloko esiyinkimbinkimbi, kodwa ngizokuchaza ngendlela elula ongayiqonda.

Yiziphi lezi zinto ezibizwa ngokuthi ama-Inborn Errors of Metabolism (IEM)?

Kalula nje, i-metabolism inqubo yamakhemikhali eguqula ukudla esikudlayo kube amandla futhi isuse imfucuza. Kufana nefektri encane emizimbeni yethu. Ukuze le fektri isebenze kahle, idinga ukuba nakho konke ekudingayo.

Manje, ama-Inborn Errors of Metabolism (IEM) , ngezinye izikhathi abizwa ngokuthi izifo ze-metabolic ezizuzwe njengefa, ayiqembu lezimo lapho inqubo yamakhemikhali engikhulume ngayo ingenziwa kahle. Kufana nalapho umshini efektri, noma umuntu osebenza kuwo, ungasebenzi kahle. Lokhu kwenzeka ngoba ama-enzyme athile, angamaphrotheni akhethekile asiza lezi zinqubo zamakhemikhali, awakhiqizwa kahle, noma ngoba awasebenzi kahle.

Yiziphi izinhlobo zamaphutha ezikhona?

Eqinisweni, kunezinhlobo eziningi zamaphutha azalwa nawo emetabolism. Ngokuvamile, lezi zifo ziqanjwa nge-enzyme engasebenzi kahle. Ake sibheke ezinye zezinhlobo ezivame kakhulu:

• Izinkinga zokugcina i-Lysosomal: Ake sithi imizimba yethu inezimboni ezincane ezicubungula imfucuza. Ngezinye izikhathi, ezifweni ezibizwa ngokuthi "izinkinga zokugcina i-Lysosomal," lezo zimboni azisebenzi kahle. Bese kuthi, imfucuza enobuthi okufanele isuswe iqongelele emzimbeni. Kufana nodoti oqongelela endlini yakho uma iloli likadoti lingafiki. Isibonelo, izifo ezifana ne-"Hurler syndrome," "Gaucher disease," kanye ne-"Tay-Sachs disease," ziwela kulesi sigaba.

• Isifo somchamo we-maple syrup: Lesi yisimo lapho ama-amino acid, izakhi eziyisisekelo zamaprotheni, anqwabelana khona emzimbeni. Lokhu kungalimaza uhlelo lwezinzwa futhi kubangele ukuthi umchamo unuke njenge-maple syrup. Yile ndlela lesi sifo esithole ngayo igama laso.

• Isifo sokugcina i-Glycogen: Lokhu kwenzeka lapho umzimba ungakwazi ukugcina ushukela (i-glucose) ngendlela efanele ekudleni esikudlayo. Lokhu kungaholela ekuncipheni koshukela egazini.

• Izifo ze-Mitochondria:Ama-Mitochondria ayizakhiwo ezincane ezisiza amaseli emizimbeni yethu ukukhiqiza amandla. Kulezi zifo, la ma-mitochondria awasebenzi kahle, ngakho-ke amaseli awakwazi ukukhiqiza amandla awadingayo. Lokhu kungathinta ukusebenza kwezitho eziningi ezibalulekile, njengobuchopho, imisipha, isibindi nezinso.

• Izinkinga ze-Peroxisomal: Lokhu kufana nezifo zokugcina i-lysosomal. Lapha, ubuthi obuyingozi buqoqana emzimbeni.

• Ukuphazamiseka kwe-metabolism yensimbi: Imizimba yethu iqukethe inani elincane lezinsimbi ezahlukahlukene. Kodwa-ke, kulezi zifo, ezinye izinsimbi ziqoqana emzimbeni bese ziba yingozi. Isibonelo, kwisifo sikaWilson, ithusi liqoqana kakhulu, kanti kwi-hemochromatosis, insimbi iqoqana kakhulu.

• Isifo somjikelezo we-urea: Lokhu kwenzeka lapho umzimba ungakwazi ukususa kahle into enobuthi ebizwa ngokuthi i-ammonia, eqoqana egazini futhi ibangele izinkinga.

Ubani othinteka kakhulu yilezi zimo?

Noma ubani angathuthukisa la maphutha azalwa nawo e-metabolism (IEMs). Lokhu kungenxa yokuthi abangelwa izinguquko ezakhiweni zethu zofuzo, noma i-DNA. Izimbangela zofuzo ezithinta uhlobo ngalunye lwe-IEM zihlukile. Kodwa-ke, uma othile emndenini wakho enalesi simo, usengozini enkulu kancane yokuthuthukisa into efana nale.

Zivame kangakanani lezi zinto?

Emhlabeni jikelele, kulinganiselwa ukuthi cishe ingane eyodwa kwezingu-2,500 ezizalwayo ingaba nalolu hlobo lokukhubazeka kokugaya ukudla. Lokhu kusho ukuthi lokhu akulona uhlobo olungavamile kangako.

Lokhu kuphazamiseka kwe-metabolic kuthinta kanjani umzimba?

Lezi zimo ze-IEM zithinta kakhulu ikhono lokusebenzisa kahle izakhamzimba ezilandelayo esizithola ekudleni esikudlayo nesikuphuzayo:

• Ama-carbohydrate (ama-starch noshukela)
• Ushukela (i-glucose)
• Amaprotheni
• Amafutha

Ngakho-ke, izimpawu zalezi zifo zingathinta izinhlelo ezahlukene zezitho zomzimba. Zingathinta nokukhula kwengane, intuthuko yengqondo, kanye nekhono lokwenza imisebenzi yansuku zonke .

Ziyini izimpawu zalokhu?

Izimpawu zalezi zinkinga ze-metabolic zokuzalwa zingahluka kumuntu nomuntu. Ubukhali besifo buyahlukahluka kumuntu nomuntu. Ezinye izimpawu ezivamile zifaka:

• Ukulibaziseka kokukhula: Lokhu kusho ukuthi amakhono engqondo nawomzimba awathuthuki ngendlela efanele iminyaka.
• Ukwehlisa isisindo noma ukukhuluphala.
• Ukungaphakeme ngokwanele (Izinselele zokukhula).
• Ukuquleka : Lokhu kusho izimo ezifana nokuquleka.
• Ukungathandi ukudla .
• Ukhathele, ukhathele njalo .
• Iphunga elingavamile elivela emchameni, ekujulukeni, noma ekuphefumuleni .
• Ubuhlungu besisu, ukuhlanza.

Khumbula, ungacabangi ukuthi unesifo ngoba nje unesinye noma ezimbili zalezi zimpawu. Kodwa-ke, uma lezi zimpawu ziqhubeka, ikakhulukazi enganeni encane, kubalulekile ukufuna iseluleko sezokwelapha. Ezinye zalezi zimo zingaba yingozi empilweni uma zingelashwa kahle.

Yiziphi izizathu zalokhu?

Imbangela eyinhloko yalezi ziphazamiso ze-metabolic zokuzalwa (i-IEMs) ukuguquka kwezakhi zofuzo . Lokhu kwenzeka ngesikhathi sombungu, okungukuthi, lapho umntwana esesibelethweni, lapho amangqamuzana ehlukana futhi akha amasha.

Ezinye zezakhi zofuzo emizimbeni yethu ziyala amaprotheni ukuthi enze ukusabela kwamakhemikhali okudingekayo enkambisweni yokuguqulwa kwezakhi zofuzo ngemva kokudla. Amaprotheni akhethekile abizwa ngokuthi ama-enzyme enza lokhu kusabela kwamakhemikhali.

Manje, emzimbeni womuntu onalesi simo se-IEM, lawo ma-enzyme awatholi imiyalelo ayidingayo ukuze enze umsebenzi wawo kahle. Yingakho lezi zimpawu zenzeka.

Uzibona kanjani lezi?

Esikhathini esiningi, odokotela bahlonza lezi zinkinga ze-metabolic zokuzalwa ngaphambi kokuba umntwana azalwe (ukuhlolwa kwangaphambi kokubeletha) noma ngesikhathi sokuhlolwa kosana olusanda kuzalwa . ESri Lanka, zonke izingane ezisanda kuzalwa ziyahlolwa ezinye zalezi zifo. Kwabanye abantu, izimpawu zingase zivele ngisho noma sezikhulile, futhi yilapho isifo sitholakala khona.

Yiziphi izivivinyo ezenziwayo ngalokhu?

Ngenxa yokuthi kunezinhlobo eziningi ze-IEM, kudingeka izivivinyo ezahlukahlukene ukuze kutholakale lesi sifo ngokunembile. Ezinye zazo yilezi:

• Ukuhlolwa kwe-metabolic: Lokhu kuhilela ukuthatha isampula yegazi noma yomchamo bese ubheka amaphethini kuma-amino acid (izakhiwo zamaprotheni), amafutha, kanye namazinga kashukela. Lokhu kungasiza ekubikezeleni uhlobo lwesifo.
• Ukuhlolwa kwezakhi zofuzo: Lapha, kuthathwa isampula yegazi noma isampula yamathe avela ngaphakathi emlonyeni bese kuhlolwa izinguquko ezakhi zofuzo.
• I-Amniocentesis: Lokhu ukuhlolwa okwenziwa ngesikhathi sokukhulelwa. Kuthathwa isampula encane yoketshezi lwe-amniotic oluzungeze umntwana esibelethweni bese kuhlolwa ukuthi alunazo yini izinkinga zofuzo.
• Ukuhlolwa kwe-glucose: Lokhu kwenzelwa ukuhlola amazinga kashukela egazini lakho. Lokhu kwenzelwa uma unezimpawu ezifana nokukhathala njalo, ukuzizwa ubuthakathaka, noma ukuquleka.
• Ukuhlolwa kwamehlo: Ezinye izimo ze-IEM zingathinta umbono, ngakho-ke kunconywa ukuhlolwa kwamehlo.

Yiziphi izindlela zokwelapha lokhu?

Ukwelashwa kwezinkinga ze-metabolic zokuzalwa kuyahlukahluka kuye ngohlobo lwesifo. Izindlela zokwelapha eziyinhloko zifaka:

• Izinguquko ekudleni: Njengoba umzimba ungakwazi ukusebenzisa kahle izakhamzimba ezikukudla okuthile, ukususa lokho kudla ekudleni kungasiza ekulawuleni izimpawu. Lokhu kungaba inqubo yempilo yonke ngezinye izikhathi.
• Ukunikeza imithi:Udokotela wakho angase akunike imithi ethile ukusiza i-metabolism yakho isebenze kahle. Lokhu kungaba ukushintshwa kwama-enzyme noma okunye ukushintshwa kwamakhemikhali.
• I-Dialysis: Lena inqubo esusa ubuthi egazini. Kungadingeka kwezinye izimo eziphuthumayo.
• Ukufakelwa isitho somzimba: Kwezinye izimo ezinzima ze-IEM, ukufakelwa isibindi, isibonelo, kungadingeka.

Izinhlobo zemithi enikeziwe

Izinhlobo zemithi enikezwayo ziyahlukahluka kuye ngohlobo lwesifo. Ezinye izibonelo yilezi:

• Isixazululo se-glucose `(Isixazululo se-glucose)`
• I-insulini (i-insulini)
• I-Sodium benzoate noma i-sodium phenylacetate
• Izithako ze-Amino Acid
• Ukufakwa esikhundleni kwe-enzyme
• Izithako zokudla

Yimiphi imiphumela engemihle engaba khona uma ingelashwa?

Uma lezi ziphazamiso zomzimba ezizalwa nazo zingaphathwa kahle, umzimba awukwazi ukusebenzisa kahle ezinye izingxenye zokudla, futhi izinto ezinobuthi zinganqwabelana egazini, okuholela ezimweni ezibucayi ezifana nalezi:

• Ukuba nesifo sokuwa (Ukuquleka)
• Ukwehluleka kwezitho zomzimba (isib. isibindi, izinso)
• Ukulimala kobuchopho

Yingakho kubaluleke kakhulu ukuhlonza lezi zifo ngokushesha nokuzelapha ngendlela efanele.

Ungaphila kanjani nezimpawu?

Uma uphila nalezi zimo ze-IEM, ngezinye izikhathi ungase uzizwe ukhathele futhi ukhathele. Uma izimpawu ziba zimbi kakhulu, kungaba nzima ukwenza imisebenzi yansuku zonke. Into ebaluleke kakhulu ukulandela uhlelo lokwelashwa udokotela wakho akunikeza lona. Kubaluleke kakhulu ukudla ukudla okufanele umzimba wakho kuphela futhi ongakucubungula kahle.

Ngezinye izikhathi, kungaba nzima ukunamathela ekudleni kukadokotela wakho, ikakhulukazi uma kuwukudla okunemingcele kakhulu. Ezimweni ezinjalo, khuluma nodokotela wakho noma isazi sokudla ukuze uthole usizo lokujwayela le ndlela entsha yokudla.

Ingabe lokhu kungavinjelwa?

Eqinisweni, lezi ziphazamiso zokuzalwa azinakuvinjelwa ngoba zibangelwa izinguquko zofuzo. Kodwa-ke, uma uhlela ukuqala umndeni, ungakhuluma nodokotela wakho mayelana nokwelulekwa ngofuzo , futhi uma kudingeka , ukuhlolwa kofuzo . Lokhu kuzokusiza uqonde ingozi yakho yokuba nengane enalesi simo sofuzo.

Impilo izoba njani ngalesi simo?

Akukho ukwelashwa kwalezi zinkinga ze-metabolic zokuzalwa (i-IEM). Ubukhulu bezimpawu zakho buzonquma ikusasa lakho. Ezinye izimo ze-IEM zingaba yingozi kakhulu uma ubuthi buqoqana egazini umzimba ongakwazi ukubususa.

Kodwa,Uma lesi sifo sitholakala kusenesikhathi, selashwa kahle, futhi kwenziwa izinguquko ezidingekayo endleleni yokuphila, abantu abaningi bangaphila impilo evamile nejabulisayo.

Kufanele ubonane nini nodokotela?

Uma izimpawu zakho ziba zimbi naphezu kokulandela uhlelo lokwelashwa olunconywe udokotela wakho, qiniseka ukuthi ubona udokotela. Uma ukhulelwe, buza udokotela wakho mayelana nokuhlolwa kokukhulelwa nokuzalwa okungasiza ekuhloleni la maphutha okuzalwa enganeni yakho.

Okubaluleke kakhulu: Uma wena noma ingane yakho ninesithuthwane, hambani niye ekamelweni lezimo eziphuthumayo esibhedlela esiseduze ngokushesha.

Imibuzo okufanele uyibuze udokotela/udokotela wakho

Uma uthola ukuthi wena noma othile emndenini wakho unalolu hlobo lwesifo sofuzo se-metabolic, ungabuza udokotela wakho imibuzo efana nale:

• Hlobo luni lwesifo sofuzo esidluliselwa ngofuzo mina/ingane yami esinaso?
• Impilo izoba njani ngalesi sifo?
• Uhlelo lwami lokwelashwa luzohlanganisani?
• Yiziphi izinkinga okufanele ngikhathazeke ngazo kakhulu?
• Lokhu kuyithinta kanjani impilo yami yansuku zonke?
• Ingabe akhona amaqembu okusekelana lapho ungahlangana khona nabanye abantu abanezifo ezingavamile njengalesi?

Okokugcina, izinto ezimbalwa okufanele uzikhumbule

Kulungile, ake sikukhumbuze futhi ngezinye zezinto esikhulume ngazo ocabanga ukuthi zibaluleke kakhulu.

• Amaphutha okuzalwa nawo emetabolism (IEM) yizimo ezibangelwa izici zofuzo eziphazamisa inqubo yokuguqula ukudla esikudlayo kube amandla nokususa imfucuza.
• Kunezinhlobo eziningi zezifo ezinjengalezi, ngasinye sinezimpawu ezahlukene kanye nokwelashwa.
• Ukuxilongwa kusenesikhathi kanye nokwelashwa okufanele kubalulekile, njengoba lokhu kungasiza abantu abaningi ukuba baphile impilo engcono.
• Ukushintsha ukudla, imithi, kanye nezinye izindlela zokwelapha ezithile kungasiza ekulawuleni lezi zifo.
• Uma unemibuzo noma ukungabaza, ungesabi ukukhuluma nodokotela wakho.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Khumbula, awuwedwa. Kukhona odokotela, ochwepheshe bezokudla, kanye namaqembu okusekela ukusiza labo abaphila nalezi zimo.

Izinkinga ze- Metabolism, izifo ze-genetic, ama-enzyme, ukugaya ukudla, izifo zezingane, ukuhlolwa kwe-genetic, i-metabolism