I naute tê diaper i thlak lai emaw, i naute i chelh lai emaw hian rim mak tak, thlum tak i hmu tih han ngaihtuah teh. Maple syrup , emaw, sugary rimtui ang maiin. A tir lamah i ngaihven lo a nih pawhin he rim hi a lo kal chhunzawm zel a nih chuan eng nu emaw pa emaw tan chuan hlauhna tlem a awm hi thil pangngai a ni. Dik tak chuan hei hi natna lan chhuahna bulpui leh chiang ber a ni a, mahse natna hmasa ber hriatchhuahna atana pawimawh tak, ‘Maple Syrup Urine Disease’ (MSUD) an tih hi a ni.
A awlsam zawngin sawi ila, hei hi metabolic disorder a ni. Chu chu, kan ei tur chu chaknaah a chantirtu, a kalphung (complex process)-ah hian chhiatna a awm tihna a ni. Kan taksa tana protein hi a pawimawh zia kan hre vek. Heng protein te hi building block te te amino acid an tih atanga siam an ni. MSUD vei tan chuan taksain amino acid chi thum, leucine, isoleucine, leh valine -te chu uluk takin a ti chhe thei lo va, chaknaah a chantir thei lo. Hei hi a chhan chu he process atana enzyme mamawh te hi an taksaah siam chhuah a nih loh vang a ni. Chuti a nih chuan eng nge thleng ang? Heng amino acid chhe thei lo leh a byproduct te hi taksa leh thisenah toxin angin an pung khawm tan thin . Heng toxins te hian thluak leh taksa peng dangte a tichhe thei a ni. He natna hi enkawl loh chuan thihna hial a thlen thei a ni. Chuvang chuan hei hi kan hriat chian a pawimawh hle a ni.
Engvangin nge hetiang natna rapthlak tak hi a lo awm?
Maple syrup zun natna hi genetic disorder a awm lo hle a ni . Khawvel pumah naupang 185,000 zinga pakhat vel chu he natna nei hian an piang a ni.
Hei hi kan genes-a mutations thenkhat avanga lo awm a ni. Heng genetic changes te hian taksain a hmaa kan sawi tawh amino acid pathum te tihchhiat nana enzyme mamawh a siam thei lo. Hei hi recessive genetic disorder a ni a . Chumi awmzia chu naute hian he natna hi a vei theih nan nu leh pa pahnih hian gene chhia chu an rochun a ngai tihna a ni.
Nang leh i kawppui hi he gene dik lo hi ‘carrier’ in ni ve ve ang tih han ngaihtuah teh. Chu chu symptoms i nei lo tihna a ni a, mahse i taksaah gene dik lo i nei tihna a ni. Chutiang a nih chuan:
- I naute hi MSUD vei a pian theihna chance 25% a awm .
- I naute hi nangmah ang bawka ‘carrier’ a nih theihna chance 50% a awm a, symptoms nei lo mahse gene chu a keng tel dawn a ni.
- Naute hian he gene chhia hi a rochun lo tak tak ang a, a hrisel ang tih hi 25% chance a awm.
He natna chi hrang hrang a awm em?
Ni e, MSUD hi chi li a awm a, a nasat dan leh a lan chhuah hun chhung a inang lo.
| MSUD chi khat a ni | A chiang leh a lan chhuah dan |
|---|---|
| Classic MSUD a ni | Hei hi a tam ber leh a pawi ber chi a ni. Hetiang natna vei naute hian enzyme mamawh tak tak an siam chhuak lo emaw, an siam tlem hle emaw a ni. Nau piang ni thum chhungin symptoms a lang tlangpui. |
| Intermediate MSUD a ni | Heng mite hian classic type aiin enzyme an siam tam zawk. Chuvang chuan a symptoms te chu a na lutuk lo. Thla 5 atanga kum 7 inkar ah hian symptoms a lang tlangpui. |
| A hun laia MSUD | Heng naupangte hi a pangngaiin an seilian a. Taksa chu a rilru hahna, khawsik emaw, rilru hahna emaw a awm hunah chauh a lan chhuah theih . Hun dangah chuan hrisel takin an lang. |
| Thiamine-responsive MSUD a ni | Thiamine hi vitamin B1 a ni. He vitamin hian enzyme te hnathawh a tipung a. Hetiang natna vei damlote hi thiamine dose sang tak pek leh ei leh in bik pek an nih chuan symptoms control theih a ni. |
Maple syrup rimtui bakah hian eng symptoms nge a neih?
Kan sawi tawh ang khan a chhinchhiahna langsar ber chu maple syrup emaw brown sugar emaw rim nam a ni. He rim hi zun atanga lo chhuak , thawmhnaw atanga lo chhuak thei leh beng hnim atanga lo chhuak thei a ni .
Mahse he rim bakah hian symptom dang tam tak a awm. Chungte chu natna chi leh mi a zirin a inang lo.
Nausen piang tharte natna lan chhuah dan (Classic MSUD) .
Enkawl loh a nih chuan heng naute hian natna lan chhuahna a nei thei a, chungte chu:
- Hahdam lohna, thinrimna reng reng
- Bawnghnute in harsat emaw, in duh loh emaw
- Mut dan pangngai lo emaw, lungngaihna nei reng reng emaw
- Thâwk lak harsat
- Muscle spasms emaw taksa arching emaw
- Coma ah a awm
Warning: Hengte hi thil pawi tak leh hmanhmawhthlak tak tak a ni. I naute hian heng symptoms zinga pakhat tal a neih chuan minute khat pawh tihkhawtlai suh, doctor pan nghal emaw, damdawi in hnai ber Emergency Department (ETU)-ah emaw hruai nghal rawh.
Naupang kum upa zawk leh puitlingah natna lan chhuah dan
Intermediate, sporadic, leh thiamine-responsive type-ah chuan kum eng pawhah symptoms a lang thei. Khawsik, natna, rilru hahna hun laiin an lo lang thei a, an na zual thei bawk.
- Pum na leh luak chhuak
- Chaw ei chakna hloh leh taksa rihna tlahniam
- Kal laiin taksa ruh chak lohna emaw, thunun theih lohna emaw
- Duhthusam lova chetna
- Thusawi hrual (slurred) a ni
- Thil hriatna hloh emaw, harh harsa emaw
Engtin nge natna hi kan hriat theih ang?
Ram changkang tam takah chuan nau piang thar screening-ah hian MSUD test te pawh a tel a ni. Chuvangin, pian atanga ni engemaw zat chhungin classic form hi hriat theih a ni. Sri Lanka-ah pawh nausen piang tharte chu natna chi hrang hrang an neih leh neih loh endik an ni. He natna hi a tlem em em a, nausen zawng zawng hi he natna hi test vek an ni lo mai thei.
Mahse, doctor chuan naute natna lan chhuah dan, a bik takin a rim danglam tak a hmuh chuan he natna hi a ringhlel thei a ni. Tichuan, thisen leh zun test bik an nei a, a natna hmuhchhuah chu finfiah a ni. Heng test te hian thisen leh zun a amino acids buaithlak tak tak te chu a sang em tih a enfiah thei a ni. A then phei chuan genetic testing hmangin a natna hi finfiah a ni bawk.
Enkawlnate chu engte nge ni? Tihdam vek theih a ni em?
He natna enkawlna atana tum ber chu taksaa amino acid tha lo awmkhawm zat control hi a ni.
Enkawlna ber chu dam chhung zawnga zawm ngai ei leh in bik hi a ni.Hei hian protein ei tur (e.g., sa, sangha, artui, bawnghnute atanga siam, leh buh chi thenkhat) harsatna thlentu amino acid (leucine, isoleucine, leh valine) tamna tihtlem a huam a ni. Chutih rual chuan, a thanlenna atana mamawh nutrient dang, a bik taka siam milk powder leh supplement te pawh pek a ni bawk. He diet plan hi doctor leh dietitian te enkawlna hnuaiah kalpui a ni .
Symptoms a nasat chuan damdawi inah dah a ngai a, enkawlna dang hman a ni.
- Vein (IVs) emaw special tube emaw hmanga ei tur pein taksaah ei tur mamawh pe rawh.
- IV hmanga glucose emaw insulin emaw pek hmangin thisen amino acid level control theih a ni.
- Thisena toxins awm khawm chu rang taka paih chhuah nan thisen chu filtration (dialysis ang chi) hnuaiah dah tur a ni.
He natna damdawi awmchhun chu thin (liver transplant) hi a ni. Mi hrisel tak atanga thin (liver) thlak a nih chuan a thin (liver) hian enzyme mamawh a siam chhuak a, chu chuan damlo chu a pangngaiin a nung thei a, ei leh in lama khapna engmah a awm lo.
Take-Home Thuchah a ni
- MSUD hi a tlem hle a, mahse genetic disease na tak a ni.
- I naute zun, thawmhnaw emaw, earwax emaw rimtui tak, maple syrup ang chi a nih chuan a chhinchhiahna lian tak a ni thei.
- Thluak leh taksa peng dangte a chhiat reng loh nan a hmaa hriatchhuah leh enkawl a pawimawh hle.
- Enkawlna ber chu dam chhung zawnga zawm ngai ei leh in bik hi a ni.
- He thuziak-a tarlan symptoms i hmuh chuan, a bik takin nau piang tharte zingah , i doctor pan nghal rawh. Diagnosis a hma chuan a result a tha zawk.
Maple Syrup Urine Disease, MSUD, Genetic Diseases, Naupang natna, Metabolic Diseases, Amino Acids, Nausen Urine Smell
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