Koj tus me nyuam puas nkees tas li? Nws puas tsis xav noj mov? Cia peb kawm txog qhov MCAD Deficiency no?

Koj tus me nyuam puas ib txwm nkees thiab tsaug zog? Puas nyuaj heev txawm tias nws mob khaub thuas lossis tsis tau noj mov? Puas yog nws ntuav lossis poob nws lub zog thaum lub sijhawm ntawd? Tej zaum muaj ib yam mob tom qab cov no uas peb tsis tham txog ntau, tab sis nws yog ib qho tseem ceeb heev uas yuav tsum paub. Qhov ntawd yog ib qho mob hu ua MCAD deficiency. Hnub no, peb yuav tham txog qhov no yooj yim heev, hauv txoj kev uas koj tuaj yeem nkag siab.

Hais yooj yim xwb, qhov tsis txaus MCAD yog dab tsi?

Xav txog peb lub cev zoo li lub tsheb. Lub tsheb xav tau roj los khiav. Ib yam li ntawd, peb lub cev xav tau lub zog los ua nws txoj haujlwm. Peb tau txais lub zog no los ntawm cov khoom noj uas peb noj. Peb cov khoom siv zog tseem ceeb yog cov carbohydrates (starches) thiab cov rog.

Feem ntau, peb lub cev siv cov carbohydrates ua ntej kom muaj zog. Tab sis thaum peb tsis tau noj mov ntau teev, lossis thaum peb tsis tuaj yeem noj mov vim muaj mob xws li kub taub hau lossis ntuav, peb lub cev pib siv cov rog ua lub zog thib ob.

Muaj ib qho enzyme tshwj xeeb hauv peb lub cev uas hloov cov rog no mus ua lub zog. Nws hu ua Medium-chain acyl-coenzyme A dehydrogenase . Cov enzyme no pab rhuav cov roj fatty acids uas pom muaj nyob rau hauv cov zaub mov uas peb noj thiab hauv peb lub cev thiab tsim lub zog.

Hauv ib tug me nyuam uas muaj MCAD tsis txaus , lub cev tsis tsim cov enzyme tshwj xeeb uas kuv tau hais txog txaus. Qhov ntawd txhais tau tias muaj qhov tsis txaus hauv nws. Yog li qhov tshwm sim yog tias yog tus me nyuam no tsis noj mov ntev, nws lub cev tsis tuaj yeem siv cov rog los tsim lub zog. Vim li no, lub zog ntawm lub cev poob qis tam sim ntawd, thiab tus me nyuam pom nws tus kheej nyob rau hauv qhov xwm txheej nyuaj.

Qhov mob no tshwm sim li cas? Puas yog nws yog caj ces?

Yog, qhov no yog ib qho mob caj ces tag nrho . Qhov ntawd txhais tau tias nws tau txais los ntawm leej niam lossis leej txiv. Qhov ua rau qhov no yog kev hloov pauv hauv cov noob hu ua 'ACADM'.

Qhov no yog tau txais los ntawm noob caj noob ces (autosomal recessive) . Kuv yuav piav qhia yooj yim txog qhov ntawd.

Xav txog tias ob niam txiv muaj ib daim qauv zoo ntawm cov noob caj noob ces 'ACADM', thiab lwm daim qauv muaj kev hloov pauv me me (kev hloov pauv). Tab sis vim lawv muaj ib daim qauv zoo, ob niam txiv tsis muaj tsos mob dab tsi. Lawv hu ua "cov neeg nqa khoom."

Thaum ob niam txiv uas muaj menyuam zoo li no muaj menyuam,

• Muaj 25% feem pua ​​uas ib tug me nyuam yuav muaj tus mob no (yog tias lawv tau txais cov noob caj noob ces hloov pauv los ntawm lawv niam thiab txiv).
• Muaj 50% feem pua ​​uas tus menyuam yuav yog tus nqa khoom uas tsis muaj tsos mob, ib yam li cov niam txiv.
• Muaj 25% feem pua ​​uas tus menyuam yuav tsis tau txais cov noob caj noob ces hloov pauv no kiag li thiab yuav yog ib tug menyuam noj qab nyob zoo tag nrho.

Cov tsos mob ntawm MCAD tsis txaus yog dab tsi?

Cov tsos mob no feem ntau tshwm sim thaum lub sijhawm menyuam yaus lossis thaum yau, tshwj xeeb tshaj yog thaum tus menyuam kub taub hau lossis ntuav thiab tsis tuaj yeem noj mov, lossis thaum qhov sib txawv ntawm cov pluas noj nce ntxiv.

Cia peb cais cov tsos mob no ua ob hom.

Cov kws kho mob kuaj mob li cas?

Qhov zoo tshaj plaws ntawm no yog tias niaj hnub no, thaum ib tug me nyuam yug los , ib tug me nyuam mos yug los.Kev kuaj mob rau cov menyuam mos tshiab ua rau pom tau ntau yam kab mob thaum ntxov, xws li MCAD deficiency. Qhov kev kuaj no yog ua los ntawm kev siv ob peb tee ntshav uas tau los ntawm pob taws ntawm tus menyuam ob peb hnub tom qab yug los.

Qhov no txhais tau tias tus menyuam tuaj yeem kuaj pom tias muaj tus mob no ua ntej lawv txawm tias muaj tsos mob. Qhov no yog ib yam dab tsi uas yuav cawm tau lawv txoj sia.

Yog tias kev kuaj mob menyuam mos ua rau muaj kev xav tias muaj tus mob no, tus kws kho mob yuav xaj kom kuaj ntxiv kom paub meej.

• Kev kuaj noob caj noob ces
• Kev kuaj ntshav thiab zis

Tom qab paub meej tias muaj tus kab mob lawm, tus kws kho mob yuav muab kev kho mob thiab cov lus qhia tsim nyog rau tus menyuam.

Yuav kho qhov teeb meem no li cas? Yuav saib xyuas tus menyuam li cas?

Kev kho tus mob MCAD tsis txaus feem ntau yog kev tswj tus menyuam txoj kev noj haus . Qhov tseem ceeb tshaj plaws ntawm no yog kom tus menyuam muaj zog. Ntawd yog, tus menyuam yuav tsum tsis txhob noj mov ntev .

Nov yog qee cov ntsiab lus tseem ceeb uas yuav tsum xav txog thaum lub sijhawm kho mob thiab kev tswj hwm.

• Muab pluas noj ntau zaus: Tsis txhob cia koj tus menyuam tshaib plab ntau teev. Ntxiv rau cov pluas noj tseem ceeb, koj yuav tsum muab khoom noj txom ncauj. Nws tsis zoo yog tias tsis noj mov ntev, txawm tias thaum hmo ntuj. Thaum koj tus menyuam tseem hluas, koj yuav tsum tsa nws sawv thaum hmo ntuj kom muab mis thiab zaub mov rau nws.
• Cov khoom noj uas muaj cov carbohydrates ntau: Muab cov khoom noj uas muaj hmoov txhuv nplej siab xws li mov, mov ci, qos yaj ywm, qos liab qab zib, thiab cov nplej rau hauv koj tus menyuam cov zaub mov noj. Cov no muab lub zog rau lub cev uas nws xav tau yooj yim.
• Txwv cov khoom noj uas muaj roj ntau: Qhov no tsis tau txhais hais tias txiav cov rog tag nrho, tab sis nws yog ib lub tswv yim zoo kom txwv cov khoom xws li cov khoom noj uas muaj roj ntau thiab kib.
• Cov tshuaj Carnitine ntxiv: Tej zaum yuav muaj ib txhia menyuam yaus uas lawv tus kws kho mob muab cov tshuaj ntxiv hu ua "Carnitine". Qhov no pab lub cev hloov cov rog mus ua zog.

Thaum koj mob, koj ua dab tsi?

Qhov no yog qhov tseem ceeb tshaj plaws. Yog tias ib tug me nyuam uas muaj MCAD deficiency muaj mob xws li kub taub hau, ntuav, lossis raws plab, nws yog qhov txaus ntshai heev. Vim tias thaum ntawd tus me nyuam yuav tsis noj mov, thiab lub zog ntawm lub cev yuav txo qis sai sai.

Muaj tej lub sij hawm, yog ib tug me nyuam yuav tsum tau phais, lawv yuav tsum tau yoo mov ua ntej phais. Yog li ntawd, tus kws kho mob yuav coj tus me nyuam mus rau tsev kho mob thiab muab cov kua glucose saline (IV fluids) rau lawv kom lawv haus dej txaus.

Thaum twg kuv yuav tsum mus ntsib kws kho mob? Thaum twg kuv yuav tsum mus rau ETU?

Yog tias koj tus menyuam tau raug kuaj pom tias muaj MCAD deficiency, mus ntsib koj tus kws kho mob tam sim ntawd hauv cov xwm txheej hauv qab no:

• Yog tias tus me nyuam tsis noj mov li qub lossis tsis noj mov lawm.
• Yog tias tus me nyuam kub taub hau, tseem tsaug zog heev, lossis zoo li qaug zog.
• Yog tias tus me nyuam tseem ntuav.

Thaum twg yuav tsum mus rau Chav Kho Mob Thaum Muaj Xwm Ceev (ETU) tam sim ntawd:

• Yog koj tus menyuam muaj mob qaug dab peg, coj lawv mus rau chav kho mob ceev hauv tsev kho mob (ETU) ze tshaj plaws yam tsis muaj kev ntxhov siab ntxiv lawm. Mob qaug dab peg yog ib qho ntawm cov teeb meem loj tshaj plaws ntawm tus kab mob no.

Ib tug me nyuam uas muaj tus kab mob no puas ua tau lub neej li qub?

Muaj tseeb tiag! Qhov ntawd yog qhov tseem ceeb thiab txaus siab tshaj plaws ntawm no. Yog tias kuaj pom tus kab mob no thaum ntxov los ntawm Kev Tshuaj Xyuas Menyuam Mos thaum yug los thiab kev noj zaub mov raws li tus kws kho mob qhia, feem ntau cov menyuam yaus tuaj yeem ua neej noj qab nyob zoo thiab zoo li qub yam tsis muaj teeb meem dab tsi.

Txawm li cas los xij, yog tias tsis kuaj pom tus kab mob no, uas yog, yog tias tsis kho thaum cov tsos mob tshwm sim, ntawm 20% -25% ntawm cov menyuam yaus tuaj yeem muaj kev tsis taus mus sij hawm ntev lossis txawm tias tuag. Yog vim li cas kev kuaj mob rau cov menyuam mos thiab kev kuaj pom tus kab mob thaum ntxov yog qhov tseem ceeb heev.