Ngezinye izikhathi abazali bayesaba kakhulu uma bebona izimpawu ezithile enganeni esanda kuzalwa. Ingane ayidli kahle, ayikhuli, noma ngokuzumayo iziphathe ngendlela engavamile. Imbangela yalezi zinto ingaba 'Izinkinga Zokugaya Ezizuzwe Njengefa', okungekho noyedwa kithi oke wezwa ngazo. Ungesabi uma uzwa leli gama. Nakuba lesi kuyisihloko esiyinkimbinkimbi kancane, ake sixoxe ngaso kalula.
Kalula nje, iyini le metabolism?
Cabanga ngemizimba yethu njengefektri enkulu. Izinto esizidlayo nesiziphuzayo ( ama-carbohydrate , amaprotheni , amafutha ) yizinto zokusetshenziswa zale fektri. Inqubo eyinkimbinkimbi yamakhemikhali esebenzisa lezi zinto zokusetshenziswa ukudala amandla umzimba owadingayo, ikhipha izinto ezingadingekile njengemfucuza, futhi yenze izinto ezintsha yilokho esikubiza ngokuthi i-metabolism .
Kukhona 'izisebenzi' kule fektri ukuze zigcine izinto zihamba kahle. Sibiza laba ngama-enzyme abasebenzi. I-enzyme ngayinye inomsebenzi owodwa kuphela. Enye iphula ushukela , enye iphula amaprotheni, kanti enye isusa ubuthi .
'Iphutha lokuzalwa lokusetshenziswa kwe-metabolism' lisho ukuthi omunye 'wabasebenzi' (ama-enzyme) kule fektri akasebenzi kahle, noma lowo msebenzi akazalwa enalo. Lokhu kungenxa yephutha 'epulanini' lezakhi zofuzo elidingekayo ukuze kwenziwe leyo enzyme.
Lokhu kufana nokulahlekelwa yisisebenzi esisodwa emgqeni wokuhlanganisa. Kungakhathaliseki ukuthi into ebalulekile ayikhiqizwa, noma engadingeki, izinto ezinobuthi ziyaqoqana bese kuvela izinkinga.
Yini ebangela lezi zifo?
Eziningi zalezi zifo zibangelwa izici zofuzo . Kalula nje, ukuze ingane ibe nesifo esinjalo, kumele ithole amakhophi amabili esakhi sofuzo esinephutha - esisodwa esivela kunina kanye nesinye esivela kuyise.
Ezimweni eziningi, bobabili abazali 'bathwala' lesi sakhi sofuzo esingasebenzi kahle. Lokhu kusho ukuthi banesakhi sofuzo esingasebenzi kahle kanye nesakhi sofuzo esinempilo emizimbeni yabo. Ngenxa yesakhi sofuzo esisebenzayo, abanazo izimpawu.
Kodwa-ke, uma ingane izuza ifa elifanayo elinokukhubazeka kumama nakubaba, umzimba wengane ngeke ukhiqize i-enzyme efanele. Yilapho-ke lesi sifo siqala khona. Lokhu akulona iphutha lomuntu, kuyinto ezuzwe njengefa.
Yiziphi izinhlobo zezifo ezikhona?
Kunezinhlobo eziningi zalezi zifo. Ngayinye inezimpawu zayo ezihlukile. Ake sibheke ezimbalwa zezinhlobo ezivame ukuxoxwa ngazo.
| Isigaba sezifo nezibonelo | Kalula nje, kwenzekani? |
|---|---|
| Izinkinga Zokugcina I-Lysosomal Isibonelo: I-Hurler syndrome, isifo sikaTay-Sachs, isifo sikaGaucher | Ngenxa yokuncipha kwama-enzyme kuma-'lysosomes', aphula imfucuza ngaphakathi kwamaseli, ubuthi buyaqoqana. Lokhu kungabangela izinto ezifana nokulimala kwemizwa kanye nokukhubazeka kwamathambo. |
| I-Galactosemia | Ingane ayikwazi ukugaya ushukela i-'galactose' otholakala obisini. Ngemva kokuphuza ubisi lwebele noma ubisi lwebhodlela, kungase kube nezimpawu ezifana nokuhlanza kanye ne-jaundice. |
| Isifo Somchamo We-Maple Syrup | Ukuqongelela kwama-amino acid athile emzimbeni kulimaza uhlelo lwezinzwa. Umchamo wengane unuka kamnandi, njengesiraphu ye-maple. |
| I-Phenylketonuria (PKU) | I-amino acid ebizwa ngokuthi 'i-phenylalanine' iqoqana egazini. Uma ingatholakali futhi ingelashwa kusenesikhathi, ingathinta intuthuko yengqondo. |
| Izinkinga Zokusetshenziswa Kwensimbi Isibonelo: Isifo sikaWilson, i-Hemochromatosis | Amaphutha kumaprotheni alawula izinsimbi ezifana nethusi nensimbi ezidingwa ngumzimba angaholela emazingeni anobuthi emzimbeni. |
Ziyini izimpawu zalesi sifo?
Izimpawu ziyahlukahluka kakhulu. Kuya ngokuthi iyiphi i-enzyme entulekayo nokuthi iyiphi inqubo yokugaya ukudla ephazamisekile. Ezinye izifo zibonisa izimpawu zingakapheli amasonto ambalwa zizelwe. Ezinye zingathatha iminyaka ukuze zikhule.
Nazi ezinye izimpawu ezivamile:
- Ukudinwa kanye nokozela: Ingane ihlala ikhathele futhi ingenampilo.
- I-Anorexia: Ukungabi nasithakazelo sokudla noma ukuphuza ubisi.
- Ubuhlungu besisu nokuhlanza: Ukuhlanza njalo.
- Ukwehla kwesisindo noma ukuntuleka kokukhuluphala: Ukukhuluphala akufaneleki ngokweminyaka.
- I-Jaundice: Amehlo nesikhumba kuba phuzi.
- Ukulibaziseka kokukhula: Izinto ezifana nokumomotheka, ukuphakamisa ikhanda, nokuhamba kwenzeka kamuva kunezinye izingane.
- Ukuquleka: Kuvela izimo ezifana nokuquleka.
- Iphunga elingavamile elivela emchameni, ekujulukeni, noma ekuphefumuleni.
Into ebaluleke kakhulu ukungesabi uma unesinye noma ezimbili zalezi zimpawu. Kodwa uma izinto ezingaphezu kweyodwa ziqhubeka, bona udokotela wakho ngokushesha.
Lesi sifo sitholakala futhi selashwa kanjani?
Ukuxilongwa kwesifo
Kwamanye amazwe athuthukile, zonke izingane ezisanda kuzalwa zihlolwa izifo eziningi ezinjalo (Ukuhlolwa Kwezinsana). Ezinye izibhedlela eSri Lanka nazo zihlolwa izifo eziningana ezinjalo.
Uma udokotela esola lokhu ngemva kokuvela kwezimpawu, uzothumela isiguli ukuze sihlolwe igazi okukhethekile kanye nokuhlolwa kwe-DNA. Lezi yizona kuphela izindlela zokuqinisekisa ngokunembile lesi sifo.
Izindlela zokwelapha
Ubuchwepheshe abukathuthuki ukuze buqede ngokuphelele isici sofuzo esibangela lezi zifo. Kodwa-ke, kunezindlela eziningi zokwelapha ezingasiza ekuphatheni lesi sifo futhi zisize ingane iphile impilo evamile.
Kunezinhloso ezintathu eziyinhloko zokwelashwa:
- Ukunciphisa ukudla umzimba ongakwazi ukukugaya: Isibonelo, ingane ene-PKU inikezwa ukudla okukhethekile okunciphisa ukudla okucebile ngamaprotheni.
- Ukwelashwa Kokufaka Ama-enzyme: Kwezinye izifo, i-enzyme inikezwa njengomjovo wokuzama ukubuyisela izinqubo zomzimba.
- Ukususa ubuthi emzimbeni:Kusetshenziswa imithi noma izindlela ezikhethekile, amakhemikhali ayingozi aqongeleleke emzimbeni ayasuswa.
Kungcono kakhulu ngengane noma umuntu omdala onalesi simo ukuthola ukwelashwa esibhedlela esikhethekile kule ndawo. Kubaluleke kakhulu ukulandela imiyalelo kadokotela ngqo.
Umlayezo Wokuya Nawe Ekhaya
- 'Izifo ze-metabolic zokuzalwa' yizimo ezibangelwa izici zofuzo. Akulona iphutha labazali nhlobo.
- Nakuba lezi zifo zingavamile ngokwazo, azivamile kangako uma zithathwa zizonke.
- Uma ingane yakho iqhubeka nokuba nokubambezeleka kokukhula, izinkinga zokudla, noma ezinye izimpawu ezingavamile, ungazinaki. Funa iseluleko sezokwelapha ngokushesha.
- Eziningi zalezi zifo zingaphathwa kahle ngokuxilongwa kusenesikhathi, ukwelashwa okufanele, kanye nokulawulwa kokudla.
- Ngokuthuthuka kwesayensi yezokwelapha, izindlela zokwelapha ezintsha nezisebenza kahle kakhulu zalezi zifo (njengokwelashwa ngezakhi zofuzo) cishe zizotholakala esikhathini esizayo.
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