1、cI|:1003-2754(2010)08-0755-01 ms |:R745.7 ?hJd= “5s蔡振利, 代 涛, 耿红梅, 徐树军l :2010-04-23; :2010-08-19T:(v iB9D * = S, Cv i163453)Jd= (methylmalonicacidemia,MMA) B , 8 L.h,1 Jd= AM (methylmalonyl-COAmutase, MCM) J# ; p8 #p1, PJd= 、d #- s, *、#、 /#“d , *“d 7 KA,1VC _ 、 、 |s、 /# *?#2,8 ?h, ?h n。 TD W l5 MMA$s
2、。1 ZE1.1 B 42008 M8 2009 M8 lMMA5 , 33 , o2 , M -18 46 , (M -32 ,h15d 1 M。 “5VC (p, O/ ,、p#8, ? 3, b=、 3 B12,VB12Q,# H , z,?h M -, “5VC _,?h - y(? 、 、5、 、 /8 ? p9F),?C 、 /# 2M。Fh A, 、 , X ( 3B12) 3 B12# gP 5 D0,h f (Az, M (,1h , |, z。YVFh ?h ?hJd= q,PMMA n5v4 3 B12 k , 1mg/d 3 5d,v - UJd= i, 3 B12Q。
3、YVv4 3 B12k , V | H、 3 B12Q,gh, 。yh B。 ID 1RoyesLF, FigheraMR, FurianAF, etal.Efectivenessofcreatinemo-nohydrateonseizuresandoxidativedamageinducedbymethylma-lonateJ.PharmacolBiochemBehav, 2006, 83(1):136-144. 2 -,b .Jd= 7 ZJ.S=h S “5, 2008, 28(1):78-80. 3_o.?Jd= .(P 4h - *= S)J.ChinJNervMentDis, 20
4、07, 33(10):13-15. 4 ,f V, .Jd= J.TianjinMedJ, 2007, 35(3):67-70. 5CoulombeJT, ShihVE, Levy, HL.Massachusetsmetabolicdisordersscreeningprogram Methylmalonicaciduria J.Pediatrics, 1981,67:26-31. 6 X , , ,. M / E5?L.%h J.8 S, 2001, 39:515. 7WayneAF, RoyAG, DavidSR.Themetabolicandmolecularbasisofinherit
5、eddiseases M.8thed.New York:McGraw 2 Hil,2001.2165-2193. 8DobsonCM, WaiT, LeclercD, etal.Identificationofthegenerespon-siblefortheCb1AcomplementationgroupofvitaminB12-responsivemethylmalonicacademiabasedonanalysisofprokaryoticgenearrange-mentsJ.ProcNatlAcadSci, 2002, 99(24):15554-15559.755 *%h 2010 M8 27 8
