Khawuthelekelele ukuba xa utshintsha i-napkin yomntwana wakho omncinci, okanye xa ubamba umntwana wakho, uphawula ivumba elingaqhelekanga nelimnandi. Njengesiraphu yemaple, okanye ivumba elineswekile . Nokuba awuyinaki ekuqaleni, ukuba eli vumba liyaqhubeka livela, kuyinto eqhelekileyo ukuba umama okanye utata azive esoyika kancinci. Enyanisweni, olu luphawu oluphambili nolucacileyo lwesifo esingaqhelekanga kodwa esibaluleke kakhulu ukuqaphela kwangethuba esibizwa ngokuba yi-'Maple Syrup Urine Disease' (MSUD).
Ngamafutshane, esi sisifo se-metabolic. Oko kukuthi, kukho isiphene kwinkqubo enzima eguqula ukutya esikutyayo kube ngamandla. Sonke siyazi ukuba iprotheyini ibaluleke kangakanani emizimbeni yethu. Ezi protheyini zenziwe ngeebhloko ezincinci zokwakha ezibizwa ngokuba zii-amino acids. Kumntu one-MSUD, umzimba awukwazi ukuqhekeza ngokufanelekileyo iintlobo ezintathu ze-amino acids, ezizezi i-leucine, i-isoleucine, kunye ne-valine , uze uziguqule zibe ngamandla. Oku kungenxa yokuba ii-enzymes ezifunekayo kule nkqubo aziveliswa emizimbeni yakhe. Ngoko ke kwenzeka ntoni emva koko? Ezi amino acids zingaphukiyo kunye nemveliso yazo ziqala ukuqokelelana emzimbeni nasegazini njengeetyhefu . Ezi tyhefu zingonakalisa ingqondo kunye nezinye izitho zomzimba. Ukuba azinyangwa, le meko inokukhokelela ekufeni. Ke ngoko, kubaluleke kakhulu ukuqaphela oku.
Kutheni kukho isifo esingaqhelekanga kangaka?
Isifo somchamo se-maple syrup sisifo esingaqhelekanga kakhulu esibangelwa yimfuza. Ehlabathini lonke, malunga nomntwana omnye kwabayi-185,000 uzalwa enale meko.
Oku kubangelwa ziinguqu ezithile kwiijini zethu. Olu tshintsho lwejini luthintela umzimba ekubeni wenze ii-enzymes ezifunekayo ukuqhekeza ii-amino acids ezintathu esithethe ngazo ngaphambili. Esi sisifo sejini esiphindaphindayo . Oku kuthetha ukuba ukuze umntwana abe nesi sifo, umama notata kufuneka bazuze ilifa lejini enesiphene.
Khawuthelekelele ukuba wena neqabane lakho nobabini 'ningabathwali' bale jini inesiphako. Oko kuthetha ukuba aninazo iimpawu, kodwa ninayo le jini inesiphako emzimbeni wenu. Ukuba kunjalo:
- Kukho amathuba angama-25% okuba umntwana wakho azalwe ene-MSUD.
- Kukho amathuba angama-50% okuba umntwana wakho abe 'ngumthwali', njengawe, ongeke abe nazimpawu kodwa uza kuthwala ijini.
- Kukho amathuba angama-25% okuba umntwana akayi kulidla ilifa eli jini linesiphene konke konke kwaye uya kuba sempilweni.
Ngaba kukho iintlobo ezahlukeneyo zesi sifo?
Ewe, kukho iintlobo ezine eziphambili ze-MSUD, ezahluka ngobunzima kunye nexesha elithathayo ukuba iimpawu zibonakale.
| Uhlobo lwe-MSUD | Ukuchaneka kunye neempawu |
|---|---|
| I-MSUD yakudala | Olu lolona hlobo luqhelekileyo nolona lunzima . Iintsana ezinale meko azivelisi ii-enzymes ezifunekayo kwaphela, okanye zivelise ezimbalwa kakhulu. Iimpawu zihlala zibonakala kwiintsuku ezintathu zokuqala zokuzalwa. |
| I-MSUD ephakathi | Aba bantu bavelisa ii-enzymes ezininzi kunezo ziqhelekileyo. Ngenxa yoko, iimpawu azikho mbi kangako. Iimpawu zihlala zibonakala phakathi kweenyanga ezi-5 kunye neminyaka esi-7 ubudala. |
| I-MSUD engapheliyo | Aba bantwana bakhula ngokwesiqhelo. Iimpawu zibonakala kuphela xa umzimba uphantsi koxinzelelo, njengomkhuhlane okanye uxinzelelo . Ngamanye amaxesha, babonakala bephilile ngokupheleleyo. |
| I-MSUD ephendula kwi-Thiamine | I-Thiamine yivithamini B1. Le vithamini inyusa umsebenzi wee-enzymes. Iimpawu zinokulawulwa xa izigulane ezinesifo esinjalo zinikwa iidosi eziphezulu ze-thiamine kunye nokutya okukhethekileyo. |
Zithini iimpawu ngaphandle kwevumba lesiraphu yemaple?
Njengoko besitshilo ngaphambili, uphawu olucacileyo livumba elinuka njenge-maple syrup okanye iswekile emdaka. Eli vumba linokuvela kumchamo , ukubila , kwane-earwax .
Kodwa kukho nezinye iimpawu ezininzi ngaphandle kweli vumba. Ezi ziyahluka ngokuxhomekeke kuhlobo lwesifo kunye nomntu.
Iimpawu kwiintsana ezisandul' ukuzalwa (i-Classic MSUD)
Ukuba ayinyangwa, la bantwana angabonisa iimpawu ezifana nezi:
- Ukungazoli rhoqo, ukucaphuka
- Ubunzima okanye ukwala ukusela ubisi
- Ukulala ngendlela engaqhelekanga okanye ukuziva uxinezelekile ngalo lonke ixesha
- Ubunzima bokuphefumla
- Ukuqaqamba kwemisipha okanye ukugoba komzimba
- I-Coma
Isilumkiso: Ezi ziimeko ezinzulu kakhulu nezingxamisekileyo. Ukuba umntwana wakho unezinye zezi mpawu, ungalibazisi nomzuzu omnye kwaye ngoko nangoko bonana nogqirha okanye umse kwiSebe leNgxamiseko (ETU) lesibhedlele esikufutshane.
Iimpawu kubantwana abadala nakubantu abadala
Kwiintlobo eziphakathi, ezingaqhelekanga, nezisabela kwi-thiamine, iimpawu zinokuvela nakweyiphi na iminyaka. Zinokuvela okanye zibe mandundu ngexesha lomkhuhlane, ukugula, okanye uxinzelelo.
- Intlungu yesisu kunye nokuhlanza
- Ukulahlekelwa ngumdla wokutya kunye nokunciphisa umzimba
- Ubuthathaka bemisipha okanye ukungakwazi ukulawula xa uhamba
- Iintshukumo ezingafunekiyo
- Intetho engacacanga
- Ukulahlekelwa zingqondo okanye ubunzima bokuhlala uphaphile
Indlela yokuxilonga esi sifo?
Kumazwe amaninzi aphuhlileyo, uhlolo lweentsana ezisandul’ ukuzalwa lubandakanya uvavanyo lwe-MSUD. Ke ngoko, uhlobo oluqhelekileyo lunokuchongwa kwiintsuku ezimbalwa emva kokuzalwa. ESri Lanka, iintsana ezisandul’ ukuzalwa nazo ziyavavanywa izifo ezahlukeneyo. Ekubeni esi sifo singaqhelekanga, ayizizo zonke iintsana ezinokuvavanywa esi sifo.
Nangona kunjalo, ugqirha unokurhanela ukuba le meko injani ukuba ubona iimpawu zomntwana, ingakumbi ivumba lakhe elingaqhelekanga. Emva koko, kwenziwa uvavanyo olukhethekileyo lwegazi nomchamo ukuqinisekisa ukuxilongwa. Olu vavanyo lunokujonga amanqanaba aphezulu ee-amino acids ezinengxaki egazini nasemchameni. Kwezinye iimeko, uvavanyo lwemfuza lusetyenziswa ukuqinisekisa imeko.
Zithini iindlela zonyango? Ingaba kunokwenzeka na ukuyinyanga ngokupheleleyo?
Injongo ephambili yokunyanga esi sifo kukulawula amanqanaba ee-amino acid eziyingozi eziqokelelana emzimbeni.
Unyango oluphambili kukutya okukhethekileyo ekufuneka kulandelwe ubomi bonke.Oku kuquka ukunciphisa ukutya okuneeproteni (umz., inyama, intlanzi, amaqanda, iimveliso zobisi, kunye neenkozo ezithile) eziphezulu kwi-amino acids eziyingxaki (i-leucine, i-isoleucine, kunye ne-valine). Kwangaxeshanye, ezinye izondlo ezifunekayo ekukhuleni ziyabonelelwa, njengemiphunga yobisi eyenzelwe ngokukodwa kunye nezongezo. Esi sicwangciso sokutya siphunyezwa phantsi kweliso elibukhali likagqirha kunye nengcali yokutya .
Kwimeko apho iimpawu zinzima, kufuneka ulaliswe esibhedlele kwaye kusetyenziswa ezinye iindlela zonyango.
- Nika umzimba isondlo esifunekayo ngokunika ukutya ngemithambo yegazi (IVs) okanye ngemibhobho ekhethekileyo.
- Lawula amanqanaba e-amino acid egazini ngokuhambisa i-glucose okanye i-insulin nge-IV.
- Ukuze ususe ngokukhawuleza iityhefu eziqokelelene egazini, igazi lihluzwe (indlela efana ne-dialysis).
Unyango oluhlala luhleli lwesi sifo kukufakelwa isibindi. Xa isibindi esivela kumntu ophilileyo sifakwa kwenye indawo, isibindi sivelisa ii-enzymes ezifunekayo, nto leyo evumela umguli ukuba aphile ubomi obuqhelekileyo, ngaphandle kwemiqathango yokutya.
Umyalezo Wokuya Ekhaya
- I-MSUD sisifo esingaqhelekanga kakhulu, kodwa esiyingozi kakhulu kwimfuza.
- Ukuba umchamo womntwana wakho, ukubila, okanye i-earwax ivumba kamnandi, njenge-maple syrup, oko kungaba luphawu olukhulu.
- Ukuxilongwa kwangoko kunye nonyango kubalulekile ukuthintela umonakalo ongunaphakade engqondweni nakwamanye amalungu omzimba.
- Unyango oluphambili kukutya okukhethekileyo ekufuneka kulandelwe ubomi bonke.
- Ukuba ubona naziphi na iimpawu ezikhankanyiweyo kweli nqaku, ingakumbi kusana olusandul’ ukuzalwa , nceda ubone ugqirha wakho ngoko nangoko. Okukhona uxilongwa kwangoko, kokukhona iziphumo zingcono.
Isifo somchamo seMaple Syrup, iMSUD, Izifo zofuzo, Izifo zabantwana, Izifo zeMetabolic, ii-Amino Acids, Ivumba lomchamo wosana
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