![Dab tsi yog congenital teeb meem ntawm glycosylation? Dab tsi yog congenital teeb meem ntawm glycosylation?](https://i.answers-medical.com/preview/medical-health/13890486-what-is-congenital-disorder-of-glycosylation-j.webp)
Video: Dab tsi yog congenital teeb meem ntawm glycosylation?
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2024 Tus sau: Michael Samuels | [email protected]. Kawg hloov kho: 2023-12-16 01:44
Congenital teeb meem ntawm glycosylation (CDG) yog pab pawg uas tau txais cov metabolism hauv teeb meem uas cuam tshuam rau txheej txheem hu ua glycosylation . Glycosylation yog txheej txheem nyuaj uas txhua tus tib neeg lub hlwb tsim cov piam thaj ntev uas txuas nrog cov protein, uas hu ua glycoproteins. CDG hom IA yog daim ntawv tshaj plaws.
Ib yam nkaus, uas yog ib qho piv txwv ntawm teeb meem thaum yug?
Piv txwv ntawm feem ntau yam ntxwv congenital ntshawv siab Congenital plawv tsis xws luag suav nrog patent ductus arteriosus, atrial septal defect, ventricular septal defect, thiab tetralogy ntawm Fallot. Cev xeeb tub anomalies ntawm lub paj hlwb suav nrog neural tube tsis xws luag xws li spina bifida, encephalocele, thiab anencephaly.
Ib tus kuj tseem yuav nug, CDG muaj ntau npaum li cas? Zoo li cas Puas yog Teeb Meem Tsis Txaus Siab ntawm Glycosylation Hom Ia? CDG -Ia suav txog 70% ntawm cov menyuam tsis sib xws ntawm glycosylation, uas ua ke cuam tshuam rau 1 ntawm txhua 50, 000 txog 100, 000 yug. Cov CDG -Ia tau tshaj tawm thoob ntiaj teb, nrog txog ib nrab los ntawm cov tebchaws Scandinavian.
Ib sab saum toj, dab tsi ua rau glycosylation?
Raws li tau tham los saum no, CDG yog ua los ntawm qhov tsis txaus lossis tsis muaj cov enzymes tshwj xeeb koom nrog kev tsim cov ntoo qab zib (glycans) thiab lawv cov kev khi rau lwm cov protein lossis lipid ( glycosylation ). Glycosylation yog txheej txheem dav thiab nyuaj. Piv txwv, PMM2-CDG yog ua los ntawm kev hloov pauv ntawm PMM2 noob.
Puas yog CDG tuag taus?
Kev yug menyuam tsis zoo ntawm glycosylation qee zaum hu ua CDG cov tsos mob. Lawv feem ntau ua rau mob hnyav, qee zaum tuag , kev ua haujlwm tsis zoo ntawm ob peb lub cev sib txawv (tshwj xeeb yog lub paj hlwb, cov leeg, thiab cov hnyuv) hauv cov menyuam mos uas cuam tshuam.
Pom zoo:
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Daws Teeb Meem. Lub zog daws teeb meem ntawm lub hom phiaj tsom iav yog ntsuas los ntawm nws lub peev xwm los sib txawv ob kab lossis cov ntsiab lus hauv ib qho khoom. Lub zog daws teeb meem ntau dua, qhov me me qhov deb tsawg kawg ntawm ob kab lossis cov ntsiab lus uas tseem tuaj yeem ua qhov txawv
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Thaum kev ntxhov siab pom tau tias yog tswj tau, teeb meem tsom mus rau cov tswv yim daws teeb meem cuam tshuam nrog cov tsos mob ntawm kev puas siab puas ntsws, thaum nyob hauv qhov xwm txheej tsis txaus ntseeg, kev xav-tsom mus rau kev daws teeb meem cuam tshuam nrog cov tsos mob tsawg dua
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AKA pob txuv vulgaris- Cov teeb meem ntawm daim tawv nqaij ua rau mob ntev ntawm cov qog sebaceous los ntawm khaws cia tso zis thiab Propionbacterium acnes, lub sijhawm tshawb fawb rau cov kab mob pob txuv. Qhov mob ntawm daim tawv nqaij qhuav, tawv nqaij vim tsis muaj lossis tsis muaj sebum uas tshwm sim los ntawm cov laus thiab los ntawm qhov txias
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Kev kho mob tsom mus rau kev kho mob, tseem hu ua kev daws teeb meem hais qhia luv (SFBT), yog hom kev kho mob uas muab qhov tseem ceeb tshaj ntawm kev tham txog kev daws teeb meem ntau dua (Berg, nd) Lo lus "luv luv" hauv kev kho mob luv luv yog qhov tseem ceeb
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CNS muaj ob hom ntaub so ntswg: grey teeb meem thiab dawb teeb meem, Grey teeb meem, uas muaj ib tug pinkish-grey xim nyob rau hauv lub hlwb nyob, muaj cov cell lub cev, dendrites thiab axon terminals ntawm neurons, yog li nws yog qhov twg tag nrho cov synapses. Qhov teeb meem dawb yog ua los ntawm axons txuas sib txawv ntawm qhov teeb meem grey rau ib leeg