Galactosemia

Galactosemia yog ib qho mob uas lub cev tsis tuaj yeem siv (metabolize) cov qab zib galactose yooj yim.

Galactosemia yog ib qho mob los ntawm kev muaj mob. Qhov no txhais tau tias nws tau dhau los ntawm cov tsev neeg. Yog tias ob leeg niam txiv nqa daim ntawv theej tsis ua haujlwm uas muaj peev xwm ua rau mob galactosemia, txhua tus ntawm lawv cov menyuam muaj feem 25% (1 ntawm 4) qhov cuam tshuam nrog nws.

Muaj 3 hom mob ntawm tus kabmob:

• Galactose-1 phosphate uridyl transferase (GALT) tsis muaj peev xwm: Classic galactosemia, feem ntau cov qauv thiab hnyav tshaj plaws
• Qhov kev tsis txaus ntawm galactose kinase (GALK)
• Qhov tsis txaus ntawm galactose-6-phosphate epimerase (GALE)

Cov neeg mob galactosemia tsis tuaj yeem cuam tshuam txog cov galactose qab zib yooj yim. Galactose ua ib nrab ntawm lactose, lub suab thaj pom hauv mis.

Yog hais tias tus me nyuam mos nrog galactosemia tau muab mis, cov tshuaj ua los ntawm galactose ua ke rau hauv tus menyuam lub cev. Cov tshuaj no ua rau lub siab, lub hlwb, raum, thiab qhov muag.

Cov neeg muaj tus kabmob galactosemia tsis tuaj yeem tiv taus ib hom mis (tib neeg lossis tsiaj). Lawv yuav tsum ceev faj txog kev noj lwm yam zaub mov uas muaj galactose.

Cov menyuam mos liab uas muaj tus kabmob galactosemia tuaj yeem tshwm sim hauv thawj ob peb hnub ntawm lub neej yog tias lawv noj mis lossis mis nyuj uas muaj lactose. Cov tsos mob tej zaum yuav yog vim muaj ntshav txaus nrog tus kab mob E coli.

Cov tsos mob ntawm tus mob galactosemia yog:

• Qhov pom tseeb
• Vauv
• Qaug zog
• Kev pub mis tsis zoo - menyuam tsis kam noj mis nyuj uas muaj mis
• Lub cev hnyav tsis zoo
• Daim tawv daj thiab ntsiab muag ntawm lub qhov muag (daj)
• Ntuav

Kev ntsuam xyuas los kuaj rau galactosemia muaj xws li:

• Ntshav cov kab mob rau cov kab mob (E coli sepsis)
• Kev ua haujlwm enzyme hauv cov ntshav liab
• Ketones nyob rau hauv cov zis
• Kev kuaj mob hauv plab los ntawm kev ntsuas ncaj qha rau enzyme galactose-1-phosphate uridyl transferase
• "Txo cov tshuaj yeeb dej caw" hauv cov menyuam mos cov zis, thiab cov ntshav qab zib ib txwm los yog qis thaum tus menyuam tseem noj niam mis lossis cov mis uas muaj lactose

Kev kuaj menyuam mos hauv ntau lub xeev kuaj xyuas tus kabmob galactosemia.

Ntsuam xyuas tshwm sim tuaj yeem qhia:

• Cov amino acids nyob rau hauv cov zis lossis ntshav ntshav
• Tsau daim siab
• Ua kua hauv plab
• Cov piam thaj hauv ntshav tsawg

Cov neeg muaj tus mob no yuav tsum zam tag nrho cov mis, cov khoom uas muaj mis nyuj (nrog rau mis nyuj qhuav), thiab lwm yam zaub mov uas muaj galactose, rau lub neej. Nyeem cov ntawv cim cov khoom lag luam kom paub tseeb tias koj lossis koj tus menyuam muaj qhov xwm txheej tsis noj zaub mov uas muaj galactose.

Menyuam mos tau noj:

• Qaub mis
• Lwm mis tsis muaj lactose
• Nqaij ua kua mis los yog Nutramigen (protein hydrolyzate mis)

Xav kom muaj cov tshuaj calcium ntau ntxiv rau.

Galactosemia Foundation - www.galactosemia.org

Cov neeg tau kuaj mob ntxov thiab tsis txhob noj mis nyuj tuaj yeem ua lub neej nyob tus. Txawm li cas los xij, muaj mob puas siab ntsws me me yuav tshwm sim, txawm tias nyob hauv cov neeg uas zam dhau galactose.

Cov teeb meem no tuaj yeem tsim kho:

• Cataracts
• Cov mob ua paug rau daim siab
• Ncua kev hais lus qeeb
• Kev coj khaub ncaws tsis xwm yeem, txo qis ua haujlwm ntawm zes qe menyuam ua rau zes qe menyuam tsis ua haujlwm thiab ntxiv lawm tshob
• Kev mob hlwb
• Kev kis mob hnyav nrog cov kab mob (E coli sepsis)
• Kev kub ntxhov (tshee) thiab tswj tsis tau lub cev muaj zog
• Tuag (yog tias muaj galactose hauv kev noj haus)

Hu koj tus kws kho mob yog hais tias:

• Koj tus menyuam mos muaj cov tsos mob galactosemia
• Koj muaj keeb kwm tsev neeg ntawm galactosemia thiab txiav txim siab muaj me nyuam

Nws yog ib qho txiaj ntsig kom paub koj tsev neeg keeb kwm. Yog tias koj muaj keeb kwm tsev neeg ntawm galactosemia thiab xav kom muaj menyuam, kev tawm tswv yim txog caj ces yuav pab koj txiav txim siab txog kev kuaj cev xeeb tub thiab kuaj menyuam hauv plab. Thaum kuaj pom tus mob galactosemia tiav, kev tawm tswv yim caj ces tau pom zoo rau lwm tus neeg hauv tsev neeg.

Ntau lub xeev kuaj xyuas txhua tus menyuam mos tshiab rau galactosemia. Yog tias kev ntsuas ntshav liab tau qhia pom tias muaj galactosemia, lawv yuav tsum tsis txhob muab cov khoom siv mis rau menyuam yaus tam sim ntawd thiab nug lawv tus kws khomob txog kev kuaj ntshav uas tuaj yeem ua kom paub meej tias muaj kabmob galactosemia.

Galactose-1-phosphate uridyl transferase deficiency; Galactokinase tsis muaj; Galactose-6-phosphate epimerase tsis muaj zog; GALT; GALK; GALE; Epimerase tsis muaj peev xwm galactosemia; GALE tsis txaus; Galactosemia yam III; UDP-galactose-4; Duarte variant

• Galactosemia

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