Cov txheej txheem:
![Dab tsi yog galactosemia tshwm sim los ntawm? Dab tsi yog galactosemia tshwm sim los ntawm?](https://i.answers-medical.com/preview/medical-health/13847059-what-is-galactosemia-caused-by-j.webp)
Video: Dab tsi yog galactosemia tshwm sim los ntawm?
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2024 Tus sau: Michael Samuels | [email protected]. Kawg hloov kho: 2023-12-16 01:44
Galactosemia yog ua los ntawm kev hloov pauv hauv cov noob thiab qhov tsis muaj cov enzymes. Tias ua qab zib galactose los tsim hauv cov ntshav. Nws yog ib qho kev tsis sib haum xeeb, thiab cov niam txiv tuaj yeem xa nws mus rau lawv cov menyuam yaus.
Ntawm no, dab tsi ua rau galactosemia?
Classic galactosemia tshwm sim thaum cov enzyme hu ua galactose-1-phosphate uridyltransferase (GALT) ploj lossis tsis ua haujlwm. Lub siab enzyme no yog lub luag haujlwm txhawm rau txhawm rau tawg galactose (cov piam thaj los ntawm cov lactose pom hauv lub mis mis nyuj, mis nyuj thiab lwm yam khoom noj siv mis) rau hauv qabzib
Ib qho ntxiv, galactosemia yog dab tsi? Galactosemia yog teeb meem uas cuam tshuam li cas lub cev ua cov piam thaj yooj yim hu ua galactose. Nws yog ib feem ntawm cov piam thaj loj hu ua lactose, uas muaj nyob hauv txhua yam khoom siv mis thiab ntau tus menyuam mos. Cov cim thiab cov tsos mob ntawm galactosemia tshwm sim los ntawm qhov tsis muaj peev xwm siv galactose los tsim lub zog.
Tib neeg tseem nug, cov cim thiab tsos mob ntawm galactosemia yog dab tsi?
Yog muab cov mis los yog cov khoom siv mis, tus menyuam mos lossis menyuam mos uas muaj galactosemia tuaj yeem tsim cov cim thiab tsos mob uas suav nrog:
- Noj tsis txaus.
- Ntuav.
- Jaundice.
- Kev hnyav hnyav nce.
- Ua tsis tau qhov hnyav rov yug los, uas feem ntau tshwm sim thaum lub sijhawm tus menyuam yug tshiab muaj ob lub hlis.
- Lub cev tsis muaj zog.
- Chim siab.
- Qaug dab peg.
Muaj pes tsawg tus mob galactosemia?
Classic galactosemia cuam tshuam 1 hauv 30, 000 txog 1 hauv 60, 000 tus menyuam yug tshiab, thiab nws yog ntau dua ntau hauv cov tib neeg ntawm haiv neeg Irish. Kev kis tus kab mob sib txawv galactosemia kwv yees yog 1 ntawm 20, 000. Qhov tshwm sim ntawm Duarte galactosemia yog kwv yees li 1 ntawm 4,000.
Pom zoo:
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