Koj tus menyuam cov zis puas tsw qab zib? Cia peb kawm txog tus kab mob tsis tshua muaj no (Maple Syrup Urine Disease)

Xav txog tias thaum koj hloov koj tus menyuam lub ntaub qhwv menyuam, lossis thaum koj tuav koj tus menyuam, koj pom ib qho tsw qab zib txawv txawv. Zoo li kua txiv maple, lossis ib qho tsw qab zib . Txawm tias koj tsis quav ntsej nws thaum xub thawj, yog tias qhov tsw qab no tseem los, nws yog ib txwm rau leej niam lossis leej txiv uas yuav ntshai me ntsis. Qhov tseeb, qhov no yog qhov tsos mob tseem ceeb thiab pom tseeb tshaj plaws ntawm tus kab mob uas tsis tshua muaj tab sis tseem ceeb heev uas yuav tsum paub txog tus mob thaum ntxov hu ua 'Maple Syrup Urine Disease' (MSUD).

Hais yooj yim xwb, qhov no yog ib qho teeb meem ntawm kev zom zaub mov. Yog li ntawd, muaj ib qho tsis zoo hauv cov txheej txheem nyuaj uas hloov cov khoom noj uas peb noj mus ua lub zog. Peb txhua tus paub tias cov protein tseem ceeb npaum li cas rau peb lub cev. Cov protein no yog ua los ntawm cov khoom me me hu ua amino acids. Hauv ib tus neeg uas muaj MSUD, lub cev tsis tuaj yeem rhuav peb hom amino acids, uas yog leucine, isoleucine, thiab valine , thiab hloov lawv mus ua lub zog. Qhov no yog vim tias cov enzymes uas xav tau rau cov txheej txheem no tsis tau tsim tawm hauv lawv lub cev. Yog li ntawd, yuav ua li cas? Cov amino acids uas tsis tawg thiab lawv cov khoom seem no pib sib sau ua ke hauv lub cev thiab cov ntshav ua cov tshuaj lom . Cov tshuaj lom no tuaj yeem ua rau lub hlwb thiab lwm yam kabmob puas tsuaj. Yog tias tsis kho, qhov mob no tuaj yeem ua rau tuag taus. Yog li ntawd, nws yog ib qho tseem ceeb heev uas yuav tsum paub txog qhov no.

Vim li cas ho muaj tus kab mob tsis tshua muaj li no?

Kab mob zis kua txiv maple yog ib qho kab mob caj ces tsis tshua muaj. Thoob ntiaj teb, muaj li ib tug ntawm 185,000 tus menyuam yug los muaj tus mob no.

Qhov no yog tshwm sim los ntawm qee qhov kev hloov pauv hauv peb cov noob caj noob ces. Cov kev hloov pauv caj noob ces no tiv thaiv lub cev los ntawm kev tsim cov enzymes uas xav tau los rhuav tshem peb cov amino acids uas peb tau tham txog ua ntej. Qhov no yog ib qho kev mob caj noob ces recessive . Qhov no txhais tau tias rau tus menyuam kom muaj tus kab mob no, ob leeg niam thiab txiv yuav tsum tau txais cov noob caj noob ces tsis zoo.

Xav txog tias koj thiab koj tus khub yog ob leeg 'tus nqa' ntawm cov noob caj noob ces tsis zoo no. Qhov ntawd txhais tau tias koj tsis muaj tsos mob, tab sis koj muaj cov noob caj noob ces tsis zoo hauv koj lub cev. Yog tias yog li ntawd:

• Muaj 25% feem pua ​​uas koj tus menyuam yuav yug los muaj MSUD.
• Muaj 50% feem pua ​​uas koj tus menyuam yuav yog tus 'neeg nqa khoom', ib yam li koj, uas yuav tsis muaj tsos mob tab sis yuav nqa cov noob caj noob ces.
• Muaj 25% feem pua ​​uas tus menyuam yuav tsis tau txais cov noob caj noob ces tsis zoo no kiag li thiab yuav noj qab nyob zoo.

Puas muaj ntau hom kab mob no sib txawv?

Yog, muaj plaub hom mob MSUD tseem ceeb, uas sib txawv ntawm qhov hnyav thiab lub sijhawm uas nws siv rau cov tsos mob tshwm sim.

Cov tsos mob dab tsi ntxiv rau qhov tsw ntawm cov kua txiv maple?

Zoo li peb tau hais ua ntej lawm, qhov cim qhia meej tshaj plaws yog ib qho tsw ntxhiab zoo li kua txiv maple lossis suab thaj xim av. Qhov tsw ntxhiab no tuaj yeem los ntawm cov zis , hws , thiab txawm tias cov quav pob ntseg .

Tiamsis muaj ntau lwm yam tsos mob ntxiv rau qhov tsw ntxhiab no. Cov no sib txawv nyob ntawm hom kab mob thiab tus neeg.

Cov tsos mob ntawm cov menyuam mos (Classic MSUD)

Yog tias tsis kho, cov menyuam no yuav muaj cov tsos mob xws li:

• Tsis tu ncua tsis so, chim siab
• Nyuaj siab los yog tsis kam haus mis nyuj
• Pw tsaug zog tsis zoo li qub lossis xav tias nyuaj siab txhua lub sijhawm
• Ua pa nyuaj
• Cov leeg nqaij ntswj los yog lub cev nkhaus
• Coma

Cov tsos mob ntawm cov menyuam yaus loj dua thiab cov neeg laus

Cov tsos mob ntawm cov tshuaj no muaj xws li cov tsos mob theem nrab, cov tsos mob uas tshwm sim tsis tu ncua, thiab cov tsos mob uas teb rau cov tshuaj thiamine, yuav tshwm sim rau txhua lub hnub nyoog. Tej zaum yuav tshwm sim lossis hnyav zuj zus thaum lub sijhawm kub taub hau, mob, lossis ntxhov siab.

• Mob plab thiab ntuav
• Tsis qab los noj mov thiab poob phaus
• Cov leeg tsis muaj zog lossis tsis tswj tau thaum taug kev
• Kev txav mus los tsis kam
• Kev hais lus tsis meej
• Tsis nco qab lossis nyuaj rau sawv ntsug

Yuav kuaj mob li cas?

Hauv ntau lub teb chaws uas muaj kev vam meej lawm, kev kuaj mob rau cov menyuam mos muaj xws li kev kuaj mob MSUD. Yog li ntawd, hom mob no tuaj yeem paub meej hauv ob peb hnub tom qab yug los. Hauv Sri Lanka, cov menyuam mos kuj raug kuaj mob ntau yam kab mob. Vim tias tus kab mob no tsis tshua muaj, tsis yog txhua tus menyuam mos yuav raug kuaj mob no.

Txawm li cas los xij, tus kws kho mob yuav xav tias muaj tus mob yog tias lawv pom tus menyuam cov tsos mob, tshwj xeeb tshaj yog qhov tsw ntxhiab tshwj xeeb. Tom qab ntawd, kev kuaj ntshav thiab zis tshwj xeeb raug ua los xyuas kom meej tias muaj tus mob. Cov kev kuaj no tuaj yeem kuaj xyuas cov amino acids uas muaj teeb meem ntau hauv cov ntshav thiab zis. Hauv qee kis, kev kuaj caj ces kuj siv los xyuas kom meej tus mob.

Cov kev kho mob yog dab tsi? Puas kho tau tag nrho?

Lub hom phiaj tseem ceeb ntawm kev kho tus kab mob no yog tswj cov qib ntawm cov amino acids uas ua rau muaj kev phom sij uas sib sau ua ke hauv lub cev.

Kev kho mob tseem ceeb yog kev noj zaub mov tshwj xeeb uas yuav tsum tau ua raws li thoob plaws lub neej.Qhov no suav nrog kev txwv cov khoom noj muaj protein (piv txwv li, nqaij, ntses, qe, khoom noj mis nyuj, thiab qee cov nplej) uas muaj cov amino acids uas muaj teeb meem ntau (leucine, isoleucine, thiab valine). Tib lub sijhawm, lwm cov as-ham uas xav tau rau kev loj hlob kuj tau muab, xws li cov mis nyuj hmoov tshwj xeeb thiab cov tshuaj ntxiv. Txoj kev npaj zaub mov no yog ua raws li kev saib xyuas ze ntawm tus kws kho mob thiab tus kws noj zaub mov .

Yog tias cov tsos mob hnyav heev, yuav tsum tau mus pw hauv tsev kho mob thiab siv lwm yam kev kho mob.

• Muab cov khoom noj khoom haus uas tsim nyog rau lub cev los ntawm kev muab zaub mov los ntawm cov hlab ntsha (IVs) lossis cov raj tshwj xeeb.
• Tswj cov amino acid hauv cov ntshav los ntawm kev muab glucose lossis insulin ntawm IV.
• Yuav kom tshem tawm cov tshuaj lom uas tau sib sau ua ke hauv cov ntshav sai sai, yuav tsum tau lim cov ntshav (ib txoj kev xws li kev lim ntshav).

Kab Mob Tso zis los ntawm kua txiv maple, MSUD, Cov Kab Mob Genetic, Cov Kab Mob Me Nyuam Yaus, Cov Kab Mob Metabolic, Cov Amino Acids, Tsw Qab Zib Rau Me Nyuam Yaus