Yu pikin de smɛl lɛk maple sirop? Lɛ wi lan bɔt dis denja sik (Maple Syrup Urine Disease) .

Yu nyu bɔbɔ in bɔdi ɔ in urine kin smɛl strenj swit lɛk maple sirop? Yu go tink se na nɔmal tin. Bɔt i kin bi sayn fɔ wan siriɔs sik we dɛn nɔ fɔ ɛva ignore ɛn we nid fɔ go to dɔktɔ wantɛm wantɛm. Dɛn kɔl dis sik maple syrup urine disease, ɔ MSUD fɔ shɔt tɛm. Tide, wi go tɔk bɔt am simpul wan ɛn izi fɔ ɔndastand.

Wetin rili na maple syrup urine disease (MSUD)?

Fɔ tɔk am simpul wan, Maple Syrup Urine Disease (MSUD) na wan jenɛtik kɔndishɔn we kin de we dɛn bɔn am, we kin las fɔ ɔl in layf, ɛn i kin mek pɔsin in layf de pan denja if dɛn nɔ trit am fayn. Na wan disɔda we de mek pɔsin in bɔdi de wok fayn. Wan mɛtabolik disɔda kin tan lɛk se i kɔmplikt to yu. Bɔt i rili simpul. I min se prɔblɛm de na di prɔses we wi bɔdi de chenj di it we wi de it to ɛnaji.

Insay MSUD, wi bɔdi nɔ kin ebul fɔ brok sɔm amino asid dɛn, we na di bildin blɔk dɛn fɔ di prɔtin fayn fayn wan, ɛn chenj dɛn to ɛnaji. Dis prɔblɛm kin apin wit tri amino asid dɛn mɔ:

• Lusin we dɛn kɔl
• Isolyusin we dɛn kɔl
• Valin bin de du am

pan pipul dεm we dεn bכn wit MSUD, dεn tri amino asid dεm ya nכ de brok dכn fayn fayn wan na di bכdi, so dεn kin gɛda na di bכdi to t כxik lεvεl dεm. Dis pɔyzin stet na di men sayn fɔ di sik, we na di smel fɔ maple syrup ɔ bɔn shuga na di urine , ia waks, ɛn swet.

Wetin na di men kayn MSUD?

Dɛn kin sheb MSUD to 4 men kayn dɛn. Nɔto ɔl kayn tin dɛn na di sem. Sɔm kin rili bad, ɛn ɔda wan dɛn nɔ kin tranga smɔl.

Dis sik kin kɔmɔn?

Nɔ, MSUD na sik we nɔ kin bɔku . Ɔlsay na di wɔl, na lɛk wan pan ɛvri 185,000 pikin dɛn nɔmɔ we dɛn bɔn.

Bɔt dis sik kin bɔku pan sɔm etnik grup dɛn. Dis kin apin mɔ pan pipul dɛn we kɔmɔt na di sem famili ɔ di sem famili, dat na pipul dɛn we mared dɛn fambul dɛn we de nia dɛn. Dis na bikɔs di jin we de mek dis sik bɔku na dɛn kɔmyuniti dɛn de.

Wetin na di sayn dɛm fɔ MSUD? Aw fɔ no if ɛnitin apin we nɔ izi fɔ yu?

E fayn fɔ no bɔt de sik bikɔs i kin ɛp fɔ bigin tritmɛnt kwik kwik wan.

Imajin wan mama we gɛt pikin we dɛn jɔs bɔn we i notis wan strenj, swit smel we i de chenj in pikin in dayapɛt ɔ we i de kɔt am. Fɔs, sɔntɛm yu nɔ go pe atɛnshɔn to am. Bɔt afta tu ɔ tri dez, di pikin nɔ kin ivin ebul fɔ drink milk, i kin kray ɔltɛm, ɛn i kin tan lɛk se i taya. Dis na di tɛm we yu nid fɔ tink kwik kwik wan se dis nɔto nɔmal tin.

If dɛn nɔ trit dis sik, i kin go bifo to mɛtabolik kraysis, we na imejensi we rili denja.

Ivin pan pikin ɛn big pipul dɛm we dɛn no se gɛt MSUD, dis kayn mɛtabolik kraysis kin kam bikɔs ɔf sɔntin lɛk infɛkshɔn, aksidɛnt, ɔr siriɔs strɛs. So i impɔtant fɔ no bɔt dis ɔltɛm.

Wetin mek dis sik kin apin?

MSUD kin kam bikɔs ɔf wan jenɛtik mutation , we kin kɔmɔt frɔm mama ɛn papa to pikin dɛn.

Fɔ tɔk am simpul wan, wi bɔdi nid wan spɛshal kayn ɛnzaym fɔ brok di amino asid dɛn we wi bin dɔn tɔk bɔt: lucine, isoleucine, ɛn valine. Wi jin dɛn de tɛl wi fɔ mek dɛn ɛnzaym dɛn ya.

Pɔsin we gɛt MSUD gɛt wan muteshon, ɔ difɛkt, na dɛn jin ya we de gi instrɔkshɔn. Dis kin mek:

• di rilevεnt εnzym kin nכ de prodyuz atכl na di bכdi.
• Ɔ, dɛn nɔ kin mek inof ɛnzaym dɛn .
• Sɔntɛnde, pan ɔl we dɛn kin mek ɛnzaym dɛn, dɛn nɔ kin wok fayn .

Ilɛk wetin na di rizin, wetin kin apin las las na dat dɛn tri amino asid dɛn de kin gɛda na di bɔdi ɛn rich di pɔyzin lɛvɛl dɛn.

Aw dis sik kin kɔmɔt frɔm wisɛf?

dis de inhεrit insay wan כtosom rεsεsiv patεn . Dis kin tan lɛk se na kɔmplikɛt wɔd, nɔto so? Mek wi kip am simpul.

Fɔ mek pikin gɛt dis sik, di mama ɛn papa ɔl tu fɔ gɛt di jin we nɔ fayn. Kεriכn min se di pכsin gεt gud kכpi εn difεktiv kכpi fכ di jin na in bכdi. Di wan dɛn we gɛt dis sik nɔ kin gɛt dis sik. dis na biכs di gud kכpi fכ di jin de mek di εnzym we nid.

Bɔt if di mama ɛn papa ɔl tu gɛt di pikin, di pikin kin gɛt di jin we nɔ fayn frɔm di mama ɛn di papa. Na if dɛn gɛt ɔl tu di jin dɛn we nɔ fayn, na in nɔmɔ di pikin go gɛt MSUD.

Wetin na de prɔblɛm wae kin kam wit dis sik?

Pɔyzin we kin gɛda na di bɔdi kin pwɛl sɔm pan wi ɔgan sistɛm dɛn. If dɛn nɔ trit am ɔ dɛn nɔ manej am fayn, dɛn prɔblɛm ya kin apin:

• Bren damej , prɔblɛm wit in nervɔs sistɛm, ɛn divɛlɔpmɛnt delay.
• Inkris risk fɔ gɛt mɛntɛl hεlth kכndyushכn lεk atεnshכn dεfisit haypa aktiviti dizכrd (ADHD), wɔri, εn pwεl hat.
• di bon mas we de dכn ( osteoporosis ), we kin mek di bon dεm brok izi wan.
• Inflameshɔn na di pankrias ( pancreatitis ), mɔ we di mɛtabolik kraysis de.
• Ed we de at we nɔ de dɔn we pɔsin kin gɛt mɔ prɛshɔn na di skel.
• Muvmεnt dizayd lεk we yu de shek shek εn we yu nכ de kכntro di mכsul dεm we de kכntrכl.
• Kɔma ɛn ivin day kin apin bikɔs ɔf infekshɔn, strɛs, ɔr nɔr it fayn.

Aw fɔ no di sik? (Diagnosis) .

Dɛn kin no se dɛn gɛt klas MSUD we dɛn de chɛk di nyu pikin dɛn, we na blɔd tɛst.

Apat frɔm dat, dɛn kin du tɛst we dɛn gɛt bɛlɛ fɔ no if di pikin gɛt di sik. dis kin bi bay we dεn tek sכm sכm sεmpl fכ di plasεnta ( chorionic villus sampling ) כ tεst di amniotic fluid we de rawnd di pikin ( amniocentesis ).

Pikin dɛn we gɛt ɔda kayn MSUD nɔ kin sho di sayn dɛn we dɛn smɔl. Sɔntɛm di sayn dɛn nɔ kin apin te sɔm ia afta dat. Da tɛm de, di dɔktɔ go kɔnfirm di sik tru blɔd tɛst ɛn jenɛtik tɛst . Dɔn bak, di spɛshal swit smel we de kɔmɔt na di pikin in bɔdi na big tin we de sho se i gɛt di sik.

Wetin na di tritmɛnt dɛm fɔ MSUD?

Pan ɔl we no mɛrɛsin nɔ de fɔ MSUD, dɛn kin ebul fɔ mɛn am fayn ɛn dɛn kin gɛt nɔmal layf. Di tritmɛnt gɛt tu men gol dɛn:

1. fכ kכntrol di lεvεl dεm fכ dεn tri amino asid dεm na di bכdi.

2. Gi imejensi tritmɛnt if mɛtabolik kraysis apin.

1. Di it we yu de it

Dis na di impɔtant pat fɔ manej MSUD. Di pɔsin we sik gɛt fɔ fala wan rili strikt it fɔ di res ɔf in layf. Dat min se yu fɔ stɔp fɔ it tin dɛn we gɛt bɔku prɔtin. Bikɔs dɛn tri amino asid dɛn de we gɛt prɔblɛm de insay prɔtin.

dεn kin gi nyu bכbi wan spεshal kayn milk pauda we nכ gεt dεn tri amino asid dεm ya, bכt i gεt כl di כda nyutriεnt dεm.

I impɔtant fɔ wok wit pɔsin we sabi bɔt it fɔ mek wan sef ɛn wɛlbɔdi it plan we fit ɛni sikman.

2. Fɔ de wach ɔltɛm

Pɔsin we gɛt MSUD fɔ de ɔnda dɔktɔ fɔ di res ɔf in layf. Dɛn kin du blɔd ɛn urine tɛst ɔltɛm fɔ chɛk di amino asid lɛvɛl na di bɔdi. Dɛn kin ajɔst di it bay di tin dɛn we kin apin.

3. Imejɛnsi tritmɛnt fɔ mɛtabolik kraysis

If yu gɛt sayn dɛm fɔ mɛtabolik kraysis, yu fɔ go na ɔspitul wantɛm wantɛm. Na di ɔspitul, di mɛdikal tim kin gi dɛn tritmɛnt ya:

• di amino asid lεvεl dεm de kכntro bay we dεn de gi intravenכs (IV) glukכs εn insulin.
• di nyutriεnt dεm we nid, bכt we nכ de du bad, dεn de gi di bכdi tru wan nasogastric tכb כ IV.
• Dɛn kin du ɛmodayalis fɔ pul pɔyzin tin dɛn na di blɔd.
• Dɛn kin chɛk di prɔblɛm dɛn lɛk we di bren kin swel ɔltɛm ɛn dɛn kin gi dɛn tritmɛnt we dɛn nid.

Yu tink se dɛn kin mɛn dis sik bay we dɛn transplant yu liva?

Yɛs. Dis na di bɛst op fɔ di wan dɛn we gɛt MSUD.Klasik MSUD kin wɛl fayn fayn wan wit liva transplant.

di rizin fכ dis na di εnzym we de brok dכn di prכblεm amino asid dεm na di liva de mek am mεntal. So we dɛn transplant wan wɛlbɔdi liva, da liva de de mek di ɛnzaym we dɛn nid. Afta dat, di pɔsin kin liv nɔmal layf we nɔ gɛt ɛnitin fɔ stɔp am fɔ it ɔ nɔ gɛt ɛnitin fɔ sho se i gɛt sik.

Bɔt fɔ transplant liva na big ɔpreshɔn. I gɛt prɔblɛm dɛn we kin mek i sɔfa. I nid bak fɔ mek di bɔdi nɔ gri fɔ tek di nyu liva fɔ mek i nɔ gɛt di sik fɔ lɔng tɛm. Bɔt dis we ya dɔn briŋ bɔku pipul dɛn bɛtɛ rizɔlt pas fɔ liv wit MSUD.

Wan we de fɔ mek dɛn nɔ gɛt dis sik?

Bikɔs MSUD na sik we pɔsin kin gɛt frɔm in jɛnɛtiks, dɛn nɔ kin ebul fɔ avɔyd am kpatakpata. Bɔt di risk fɔ mek pikin gɛt di sik kin smɔl.

If pɔsin na yu famili gɛt MSUD, i impɔtant fɔ tɔk to yu dɔktɔ bɔt am bifo yu bɔn pikin. Yu ɛn yu patna kin gɛt jenɛtik tɛst fɔ si if yu na pɔsin we gɛt di sik. If una ɔl tu na di wan dɛn we gɛt di sik, una kin tɔk to pɔsin we de gi advays bɔt di jenɛtiks bɔt di risk we yu gɛt fɔ pas di sik to yu pikin ɛn wetin yu go du fɔ mek i nɔ gɛt am.