Video: CDG muaj ntau npaum li cas?
2024 Tus sau: Michael Samuels | [email protected]. Kawg hloov kho: 2023-12-16 01:44
Ua 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. Case ntawm CDG -Ia tau tshaj tawm thoob ntiaj teb, nrog txog ib nrab los ntawm cov tebchaws Scandinavian.
Tsis tas li ntawd, muaj pes tsawg tus neeg muaj CDG?
Feem ntau hom (PMM2- CDG ) muaj tau tshaj tawm hauv ntau dua 700 tus tib neeg. Feem ntau, cov teeb meem no tshwm sim thaum me nyuam mos.
Ib qho ntxiv, puas yog CDG tuag taus? Congenital disorders ntawm glycosylation yog qee zaum hu ua CDG syndromes. Lawv feem ntau ua rau mob hnyav, qee zaum tuag taus , malfunction ntawm ntau lub cev sib txawv (tshwj xeeb tshaj yog lub paj hlwb, cov leeg, thiab cov hnyuv) nyob rau hauv cov me nyuam mos.
Ib yam nkaus, tus kab mob CDG yog dab tsi?
Congenital disorders ntawm glycosylation ( CDG ) yog ib pawg ntawm cov kab mob metabolic uas cuam tshuam rau cov txheej txheem hu ua glycosylation. Cov tib neeg nrog a CDG ploj lawm ib qho ntawm cov enzymes uas xav tau rau glycosylation.
alg11 CDG yog dab tsi?
NQA 11 - CDG . Kab mob txhais. Ib hom kab mob hauv lub cev ntawm N-txuas glycosylation tus cwj pwm los ntawm lub ntsej muag dysmorphism (microcephaly, siab hauv pliaj, qis posterior plaub hau, strabismus), hypotonia, tsis ua kom muaj zog, qaug dab peg, kev loj hlob qeeb, ntuav thiab plab hnyuv.
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