Ngamanye amaxesha abazali bayoyika kakhulu xa bebona iimpawu ezithile kusana olusandul’ ukuzalwa. Usana alutyi kakuhle, alutyebi, okanye luziphatha ngendlela engaqhelekanga ngequbuliso. Unobangela wezinto ezinjalo usenokuba 'yi-Inherited Metabolic Disorders', ekungekho namnye kuthi okhe weva ngayo. Musa ukoyika xa usiva eli gama. Nangona eli ligama elinzima kancinci, masithethe ngalo ngokulula.
Ngamafutshane, yintoni le metabolism?
Cinga ngemizimba yethu njengomzi-mveliso omkhulu. Izinto esizityayo nesiziselayo ( iicarbohydrate , iiproteni , amafutha ) zezona zinto zisetyenziswayo kule mzi-mveliso. Inkqubo entsonkothileyo yeekhemikhali esebenzisa ezi zinto zisetyenziswayo ukudala amandla afunekayo emzimbeni, ikhuphe izinto ezingafunekiyo njengenkunkuma, ize yenze izinto ezintsha yile nto siyibiza ngokuba yimetabolism .
Kukho 'abasebenzi' kule fektri ukugcina izinto zihamba kakuhle. Sibabiza ngokuba zii-enzymes zabasebenzi. I-enzyme nganye inomsebenzi omnye kuphela. Enye iphula iswekile , enye iphula iproteni, kwaye enye isusa iityhefu .
'Impazamo yokuzalwa yemetabolism' ithetha ukuba omnye 'wabasebenzi' (ii-enzymes) kule mveliso akasebenzi kakuhle, okanye loo msebenzi akazalwa enayo. Oku kungenxa yesiphene 'kwisicwangciso' semfuza esifunekayo ukwenza loo enzyme.
Oku kufana nokulahlekelwa ngumsebenzi omnye kumgca wokudibanisa. Nokuba kukho into ebalulekileyo engaveliyo, okanye engeyomfuneko, izinto ezinobuthi ziyaqokelelana kuze kuvele iingxaki.
Yintoni ebangela ezi zifo?
Uninzi lwezi zifo lubangelwa zizinto zemfuza . Ngamafutshane, ukuze umntwana abe nesifo esinjalo, kufuneka afumane iikopi ezimbini zemfuza enesiphene - enye evela kunina nenye evela kuyise.
Kwiimeko ezininzi, bobabini abazali 'bathwala' esi sigulo sejini esingenasiphako. Oku kuthetha ukuba banesigulo sejini esingenasiphako kunye nesisempilweni emizimbeni yabo. Ngenxa yesigulo sejini esisempilweni, abanazo iimpawu.
Nangona kunjalo, ukuba umntwana ufumana ilifa le-gene enesiphene efanayo kumama nakutata, umzimba womntwana awuyi kuvelisa i-enzyme efanelekileyo. Kulapho ke esi sifo sivela khona. Asikuko ukuba kukho umntu onetyala, yinto ezuzwe njengelifa.
Ziziphi iintlobo zezifo ezikhoyo?
Kukho amakhulu ezi ntlobo zezifo. Ngasinye sineempawu zaso ezizodwa. Makhe sijonge ezimbalwa zezona ntlobo zixhaphakileyo ekuxoxwa ngazo.
| Udidi lwezifo kunye nemizekelo | Kalula nje, kwenzeka ntoni? |
|---|---|
| Iingxaki zokugcina izinto zeLysosomal Umzekelo: Isifo sikaHurler, isifo sikaTay-Sachs, isifo sikaGaucher | Ngenxa yokuncipha kwee-enzymes kwi-'lysosomes', eziqhekeza inkunkuma ngaphakathi kweeseli, iityhefu ziyaqokelelana. Oku kunokubangela izinto ezifana nomonakalo wemithambo-luvo kunye nokukhubazeka kwamathambo. |
| I-Galactosemia | Usana alukwazi ukugaya iswekile ethi 'galactose' efumaneka kubisi. Emva kokusela ubisi lwebele okanye ubisi oluyifomyula, iimpawu ezinjengokuhlanza kunye ne-jaundice zinokubakho. |
| Isifo somchamo weMaple Syrup | Ukuqokelelwa kwee-amino acids ezithile emzimbeni konakalisa inkqubo yemithambo-luvo. Umchamo womntwana unuka kamnandi, njengesiraphu yemaple. |
| I-Phenylketonuria (PKU) | I-amino acid ebizwa ngokuba yi-'phenylalanine' iqokelelana egazini. Ukuba ayifunyaniswanga kwaye ayinyangwa kwangethuba, inokuchaphazela uphuhliso lwengqondo. |
| Iingxaki zeMetabolism yeMetabolism Umzekelo: Isifo sikaWilson, iHemochromatosis | Iziphene kwiiproteni ezilawula iintsimbi ezifana nekopolo kunye nesinyithi ezifunekayo ngumzimba zinokubangela amanqanaba etyhefu emzimbeni. |
Zithini iimpawu zesi sifo?
Iimpawu zahluka kakhulu. Kuxhomekeke ekubeni yeyiphi i-enzyme engekhoyo kwaye yeyiphi inkqubo ye-metabolism ephazamisekileyo. Ezinye izifo zibonisa iimpawu kwiiveki ezimbalwa emva kokuzalwa. Ezinye zingathatha iminyaka ukuba zikhule.
Nazi ezinye zeempawu eziqhelekileyo:
- Ukudinwa kunye nokozela: Umntwana uhlala ediniwe kwaye engenabomi.
- I-Anorexia: Akukho mdla wokutya okanye wokusela ubisi.
- Intlungu yesisu nokuhlanza: Ukuhlanza rhoqo.
- Ukwehla kobunzima okanye ukungonyuki: Ukunyuka kobunzima akufanelekanga ngokweminyaka.
- I-Jaundice: Amehlo nolusu luba tyheli.
- Ukulibaziseka kokukhula: Izinto ezinje ngokuncuma, ukuphakamisa intloko, nokuhamba kwenzeka emva kwexesha kunabanye abantwana.
- Ukuxhuzula: Kuyenzeka iimeko ezifana nokuxhuzula.
- Ivumba elingaqhelekanga elivela kumchamo, ukubila, okanye ukuphefumla.
Eyona nto ibalulekileyo kukungaxhalabi ukuba unenye okanye ezimbini zezi mpawu. Kodwa ukuba ezinye zezi zinto ziyaqhubeka, bona ugqirha wakho ngokukhawuleza.
Isifo sichongwa kwaye sinyangwa njani?
Ukuxilongwa kwesifo
Kwamanye amazwe aphuhlileyo, usana ngalunye olusandul’ ukuzalwa luhlolwa inani lezifo ezinjalo (Ukuhlolwa Kweentsana Ezisandul’ Ukuzalwa). Ezinye izibhedlele eSri Lanka nazo zihlola izifo ezininzi ezinjalo.
Ukuba ugqirha ukrokrela oku emva kokuba iimpawu zivele, uza kuthumela isigulana ukuba siye kuvavanywa igazi ngokukodwa kunye novavanyo lwe-DNA. Ezi zezona ndlela zokuqinisekisa ngokuchanekileyo isifo.
Iindlela zonyango
Ubuchwepheshe abukaphuhlisi ukunyanga ngokupheleleyo isiphene semfuza esibangela ezi zifo. Nangona kunjalo, kukho iindlela ezininzi zonyango ezinokunceda ukulawula esi sifo kwaye zincede umntwana aphile ubomi obuqhelekileyo.
Kukho iinjongo ezintathu eziphambili zonyango:
- Ukunciphisa ukutya okungenakugaywa ngumzimba: Umzekelo, umntwana one-PKU unikwa ukutya okukhethekileyo okunciphisa ukutya okuneproteni eninzi.
- Unyango Lokutshintshwa Kwe-Enzyme: Kwezinye izifo, i-enzyme inikwa njengesitofu sokugonya ukuzama ukubuyisela iinkqubo zomzimba.
- Ukususa iityhefu emzimbeni:Ngokusebenzisa amayeza okanye iindlela ezikhethekileyo, iikhemikhali eziyingozi eziqokelelene emzimbeni ziyasuswa.
Kungcono ukuba umntwana okanye umntu omdala onesi sifo afune unyango kwisibhedlele esigxile kweli candelo. Kubaluleke kakhulu ukulandela imiyalelo kagqirha ngokuchanekileyo.
Umyalezo Wokuya Ekhaya
- 'Izifo ze-metabolic ezizalwa nazo' ziimeko ezibangelwa zizinto zemfuza. Azilotyala labazali konke konke.
- Nangona ezi zifo zinqabile ngokwahlukeneyo, azinqabile kangako xa zithathwa zizonke.
- Ukuba umntwana wakho uyaqhubeka nokuba nexesha lokukhula elilibazisekileyo, iingxaki zokutya, okanye ezinye iimpawu ezingaqhelekanga, musa ukuzityeshela. Funa ingcebiso kagqirha ngoko nangoko.
- Uninzi lwezi zifo lunokulawulwa kakuhle ngokuxilongwa kwangethuba, unyango olufanelekileyo, kunye nolawulo lokutya.
- Ngokuhambela phambili kwesayensi yezonyango, unyango olutsha nolusebenzayo ngakumbi kwezi zifo (ezifana nonyango lwezakhi zofuzo) lunokwenzeka ukuba lufumaneke kwixesha elizayo.
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