Imajin se we yu chenj yu smɔl pikin in dayapɛt, ɔ we yu ol yu pikin, yu notis wan strenj ɛn swit smel. Lɛk maple syrup , ɔ wan smel we gɛt shuga . Ivin if yu nɔ pe atɛnshɔn to am fɔs, if dis smel kɔntinyu fɔ kam, i nɔmal fɔ mek ɛni mama ɔ papa fil fred smɔl. Infakt, dis na di men ɛn klia simptom fɔ di rare bɔt i rili impɔtant fɔ no di fɔs sik kɔndishɔn we dɛn kɔl ‘Maple Syrup Urine Disease’ (MSUD).
Fɔ tɔk am simpul wan, dis na disɔda we de mek pɔsin in bɔdi de wok fayn. Dat min se, wan prɔblɛm de na di kɔmpleks prɔses we de tɔn di it we wi de it to ɛnaji. Wi ɔl no aw impɔtant prɔtin impɔtant fɔ wi bɔdi. dis protin dεm na sכm sכm bildin blכk dεm we dεn kכl amino asid. Insay pɔsin we gɛt MSUD, di bɔdi nɔ kin ebul fɔ brok tri kayn amino asid dɛn fayn fayn wan, we na lucine, isoleucine, ɛn valine , ɛn chenj dɛn to ɛnaji. dis na biכs di εnzym dεm we dεn nid fכ dis prכsεs nכ de prodyuz na dεn bכdi. So wetin kin apin da tɛm de? Dɛn amino asid ya we nɔ de brok ɛn di tin dɛn we dɛn kin mek kin bigin fɔ gɛda na di bɔdi ɛn blɔd as pɔyzin . Dɛn pɔyzin ya kin pwɛl di bren ɛn ɔda pat dɛn. If dɛn nɔ trit dis sik, i kin ivin mek pɔsin day. So, i rili impɔtant fɔ mek wi no bɔt dis.
Wetin mek dis kayn sik we nɔ kin apin so ɔltɛm kin apin?
Maple syrup urine disease na wan sik we nɔ kin apin so ɔltɛm . Ɔlsay na di wɔl, na lɛk wan pan ɛvri 185,000 pikin dɛn kin bɔn wit dis sik.
Dis kin apin bikɔs sɔm chenj dɛn we de apin na wi jin dɛn. dis jεnεtik chenj dεm de mek di bכdi nכ de mek di εnzym dεm we i nid fכ brok di tri amino asid dεm we wi bin tכk bכt. Dis na wan sik we dɛn kɔl recessive genetic disorder . Dis min se fɔ mek di pikin gɛt dis sik, di mama ɛn di papa ɔl tu fɔ gɛt di jin we nɔ fayn.
Imajin se yu ɛn yu patna ɔl tu na ‘kɛriɔ’ fɔ dis fɔlt jin. Dat min se yu nɔ gɛt di sik, bɔt yu gɛt di fɔlt jin na yu bɔdi. If na so i bi:
- 25% chans de fɔ mek dɛn bɔn yu pikin wit MSUD.
- 50% chans de fɔ mek yu pikin bi ‘kɛriɔ’, jɔs lɛk yu, we nɔ go gɛt ɛni simptom bɔt i go kɛr di jin.
- 25% chans de fכ di pikin nכ go gεt dis difεktiv jin at כl εn i go hεlty.
Yu tink se difrɛn kayn dis sik de?
Yɛs, 4 men kayn MSUD de, we kin difrɛn pan aw i kin tranga ɛn di tɛm we i kin tek fɔ mek di sayn dɛn sho.
| Di kayn MSUD we dɛn kin yuz | Spesifi k ɛn di simptom dɛm |
|---|---|
| Klasik MSUD we dɛn kin yuz | Dis na di kayn we we pipul dɛn kin gɛt ɛn we kin rili siriɔs . di pikin dεm we gεt dis kכndyushכn nכ de prodyuz di εnzym dεm we nכ nid atכl, כ dεn de prodyuz bכku bכku wan. di sayn dεm kin sho insay di fכs tri de dεm we dεn bכn am. |
| Intɛrmɛdiet MSUD | dis pipul dεm de prodyuz mכr εnzym dεm pas di klas tכp. So, de sayn dɛm nɔr kin tranga lɛk dat. di sayn dεm kin sho bitwin 5 mכnt εn 7 ia . |
| MSUD we de apin wan wan tɛm | Dɛn pikin ya kin gro nɔmal wan. Di sayn dɛm kin apin nɔmɔ we di bɔdi gɛt strɛs, lɛk fiva ɔ strɛs . Ɔda tɛm dɛn, i kin tan lɛk se dɛn gɛt wɛlbɔdi ɔlsay. |
| MSUD we de ansa na thiamin | Tiamin na vaytamɛn B1. dis vaytam in de mek di εnzym dεm wok bכku. Dɛn kin kɔntrol di sayn dɛm we dɛn gi di wan dɛn we gɛt dis kayn sik bɔku bɔku thiamine ɛn spɛshal it. |
Wetin na di sayn dɛm apat frɔm di smel fɔ maple syrup?
As wi bin dɔn tɔk, di sayn we de sho klia wan na we i de smɛl lɛk maple srɔp ɔ brawn shuga. Dis smel kin kɔmɔt frɔm urine , swet , ɛn ivin ia waks .
Bɔt bɔku ɔda sayn dɛn de apat frɔm dis smel. Dɛn tin ya kin difrɛn fɔ di kayn sik ɛn di pɔsin.
Di simptom dɛm na pikin dɛm we dɛn jɔs bɔn (Klasik MSUD) .
If dɛn nɔ trit dɛn pikin ya, dɛn kin sho sɔm sayn dɛn lɛk:
- Nɔr kin rɛst ɔltɛm, yu kin vɛks
- I nɔ izi fɔ drink ɔ nɔ gri fɔ drink milk
- Slip nɔrmal ɔr de fil pwɛl hat ɔltɛm
- I nɔ izi fɔ blo
- Mɔsul dɛn kin spam ɔ bɔdi kin arch
- Kɔma
Wonin: Dɛn tin ya na tin dɛn we rili siriɔs ɛn we kin apin kwik kwik wan. If yu pikin gɛt ɛni wan pan dɛn sik ya, nɔ delay ivin wan minit ɛn go to dɔktɔ wantɛm wantɛm ɔ kɛr am go na di Imejɛnsi Dipatmɛnt (ETU) na di ɔspitul we de nia yu.
Di sayn dɛm wae kin kam pan pikin dɛm wae dɔn big ɛn big pipul dɛm
Na di intamɛdiet, sporadik, ɛn thiamine-responsive tayp dɛm, di sayn dɛm kin apia pan ɛni ej. Dɛn kin apia ɔr wɔs pan tɛm wae pɔrsin gɛt fiva, sik, ɔr strɛs.
- Bɛlɛ de at ɛn vɔmit
- I nɔ kin want fɔ it ɛn i nɔ kin gɛt bɔku bɔku bɔdi
- Di mɔsul dɛn we wik ɔ we yu nɔ ebul fɔ kɔntrol yusɛf we yu de waka
- Muvmɛnt dɛn we yu nɔ want
- Fɔ tɔk we nɔ de tɔk fayn
- I nɔ kin no natin ɔ i nɔ kin izi fɔ lɛ i wek
Aw fɔ no di sik?
Insay bɔku divɛlɔp kɔntri dɛn, fɔ chɛk nyu pikin dɛn kin gɛt fɔ du wit tɛst fɔ MSUD. So, dεn kin no di klas fכm insay fכs dez afta dεn bכn am. Insay Sri Lanka, dɛn kin tɛst pikin dɛn we dɛn jɔs bɔn bak fɔ si if dɛn gɛt difrɛn sik dɛn. Bikɔs dis sik nɔ kin bɔku, nɔto ɔl pikin dɛn kin tɛst fɔ dis sik.
Bɔt dɔktɔ kin sɔprayz se i gɛt dis sik if dɛn notis di pikin in sayn dɛn, mɔ di difrɛn smel we i de smɛl. Dɔn, dɛn kin du spɛshal blɔd ɛn urine tɛst fɔ no if pɔsin gɛt di sik. dis tεst dεm kin chεk fכ εlevεt lεvεl dεm fכ di prכblεm amino asid dεm na di bכdi εn urine. Sɔntɛnde, dɛn kin yuz jenɛtik tɛst bak fɔ no if pɔsin gɛt di sik.
Wetin na di tritmɛnt dɛn? Yu tink se i pɔsibul fɔ mɛn am kpatakpata?
Di men gol fɔ trit dis sik na fɔ kɔntrol di lɛvɛl dɛn we di bad bad amino asid dɛn we kin gɛda na di bɔdi.
Di men tritmɛnt na spɛshal it we pɔsin fɔ fala ɔl in layf.dis involv fכ limited protin it dεm (e.g., mit, fish, eg, dairy prodakt, εn sכm gren dεm) we gεt hכy pan di prכblεm amino asid dεm (lucine, isoleucine, εn valine). na di sem tεm, dεn de gi כda nyutriεnt dεm we dεn nid fכ gro, lεk spεshal fכmulayt milk pauda dεm εn supliment dεm. Dɛn kin du dis plan fɔ it tin dɛn ɔnda dɔktɔ ɛn pɔsin we sabi bɔt it .
If di sayn dɛn kin rili bad, dɛn kin nid fɔ go na ɔspitul ɛn dɛn kin yuz ɔda tritmɛnt dɛn.
- Gi di bɔdi di it we i nid bay we yu gi it tru wan vein (IV) ɔ spɛshal tyub dɛn.
- kכntrol di blכd amino asid lεvεl bay we yu gi glukכs כ insulin tru IV.
- Fɔ pul di pɔyzin we dɔn gɛda na di blɔd kwik kwik wan, put di blɔd to filtration (wan we lɛk dayalaysis).
Di wangren we fɔ mɛn dis sik we go de sote go na we dɛn transplant yu liva. We dɛn transplant liva frɔm pɔsin we gɛt wɛlbɔdi, di liva kin mek di ɛnzaym dɛn we i nid, we kin mek di pɔsin liv nɔmal wan, ɛn nɔ gɛt ɛnitin fɔ stɔp am fɔ it.
Mɛsej we dɛn kin kɛr go na os
- MSUD na wan sik we nɔ kin apin so ɔltɛm, bɔt we kin rili siriɔs.
- If yu pikin in urine, swet, ɔ ia waks de smɛl swit lɛk maple sirop, dat kin bi wan big sayn.
- I impɔtant fɔ no di sik kwik kwik wan ɛn trit am fɔ mek di bren ɛn ɔda pat dɛn nɔ pwɛl sote go.
- Di men tritmɛnt na spɛshal it we pɔsin fɔ fala ɔl in layf.
- If yu notis ɛni wan pan di sayn dɛn we wi tɔk bɔt na dis atikul, mɔ pan pikin we dɛn jɔs bɔn , duya go to yu dɔktɔ wantɛm wantɛm. Di mɔ we dɛn no di sik kwik kwik wan, na di mɔ di tin go fayn.
Maple Syrup Urine Disease, MSUD, Jɛnɛtik Sik, Pikin Sik, Mɛtabolik Sik, Amino Asid, Bebi Yurin Smel
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