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Cov
Lus Qhia Ntxiv txog Keeb Kwm Ntawm 2-MBADD
2-MBADD yog ib lub npe luv rau ib tug mob hu ua 2-Methylbutyryl-CoA
Dehydrogenase Deficiency. Tus mob no tseem muaj ib lub npe hu ua
Short Branched-Chain Acyl-CoA Dehydrogenase deficiency, los yog lub
npe lus hu ua SBCADD.
Tus
mob no tau pom muaj tshwm thawj zaug rau xyoo 1999 rau ob tug me
nyuam ua yog neeg European thiab ib tug me nyuam thiab ib tug poj
niam uas yog neeg Pakistani. Tau kuaj pom ob tug me nyuam muaj tus
mob no vim nkawd hlob taj, lub cev hlob tsis zoo thiab tej nqaij pob
txha tsis muaj zog. Thaum uas ob tug me nyuam no muaj mob kub ib ce,
kis tau mob, los yog, ncauj tsuag tsis qab los mas nkawd muaj ib cov
tsos mob nhyav hu ua metabolic crisis. Tom qab, ib yim neeg no kuj
tau ib tug me nyuam ntxhais, mas lawv tau kuaj nws ces paub tias nws
muaj tus mob no. Lawv txawm pib muab ib co mis tshwj xeeb uas tsis
muaj cov protein ntau thiab txhab kom muaj cov carnitine pab tus me
nyuam. Tus me nyuam no kuj hlob zoo. Thaum lawv kuaj pom tus poj
niam Pakistani tus me nyuam mos muaj tus mob 2-MBADD no, mas lawv ho
kuaj pom tias nws muaj tus mob no thiab. Tus poj niam no kuj tsis
pom muaj mob nhyav dab tsi.
Txij li xyoo 2001 tau kuaj pom muaj tshaj 30 tus me nyuam uas muaj
tus mob 2-MBADD hauv lub xeev Wisconsin thiab lub xeev Minnesota.
Tag nrho cov me nyuam no puav leej yog me nyuam Hmoob. Ib co me
nyuam pib noj cov mis uas muaj protein tsawg tab sis ib co kuj tsis
noj. Tsis muaj ib tug me nyuam Hmoob uas muaj tus mob 2-MBADD hauv
Wisconsin tau muaj cov tsos mob nhyav. Tsuas muaj ob peb tug me
nyuam muaj nqaij pob txha tsis muaj zog tiam sis thaum lawv loj hlob
tuaj ces lawv kuj muaj zog sis lawm. Muaj ib tug me nyuam mas kawm
hais lus nyuaj tiam sis peb tsis paub tseeb tias puas yog tim tus
mob 2-MBADD ua li ntawd. Tseem tsis pom muaj ib tug me nyuam uas
muaj mob nhyav( metabolic crisis).
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