TY -的T1 -减少大脑胆碱高胱氨酸尿由于remethylation缺陷JF -神经学乔-神经病学SP - 44 wnl.0000316391.40236 LP - 49 - 首页10.1212/01.。c3六世- 71 - 1 AU - f - g。r AU - y .雅盟- a . Khiat盟- j - c。Decarie AU - j . Orquin AU - m - s。罗伊AU - a . Lortie盟- f·拉莫斯AU - n . m . Verhoeven盟- e . Struys盟- h·j·布鲁姆AU - c手跟前AU - e . Levy盟- g·a·米切尔盟- m·兰伯特Y1 - 2008/07/01 UR - //www.ez-admanager.com/content/71/1/44.abstract 首页N2 -目的:调查是否二次转甲基作用通路的障碍是神经机制参与高胱氨酸尿由于remethylation缺陷。方法:12神经疾病患者由于remethylation缺陷被大脑核磁共振光谱成像检查(1 h MRSI)。大脑N-acetylaspartate choline-containing化合物(Cho),肌酸(Cr)以控制量化和比较。代谢物的remethylation周期和肌酸生物合成途径测定血浆和尿液。结果:MRSI透露孤立曹缺乏所有地区检查(意味着浓度单位±SD,病人与控制):额叶白质(0.051±0.010 vs 0.064±0.010;p = 0.001),豆状核(0.056±0.011 vs 0.069±0.009;p & lt; 0.001), and thalamus (0.063 ± 0.010 vs 0.071 ± 0.007; p = 0.006). In contrast to controls, the Cho/Cr ratio decreased with age in patients in the three brain regions examined. Low creatine urinary excretion (p < 0.005), normal urine and plasma guanidinoacetate, and a paradoxical increase in plasma S-adenosylmethionine (p < 0.005) concentrations were observed. Conclusion: Patients with homocystinuria due to remethylation defects have an isolated brain choline deficiency, probably secondary to depletion of labile methyl groups produced by the transmethylation pathway. Although biochemical studies suggest mild peripheral creatine deficiency, brain creatine is in the reference range, indicating a possible compartmentation phenomenon. Paradoxical increase of S-adenosylmethionine suggests that secondary inhibition of methylases contributes to the transmethylation defect in these conditions. CblC=combined homocystinuria-methylmalonic aciduria; CblG=methionine synthase deficiency; CBS=cystathionine β-synthase; Cho=water-soluble choline-containing compounds; Cr=creatine; DQ=developmental quotient; Met=plasma methionine; MR=magnetic resonance; MSRI=magnetic resonance spectroscopic imaging; MTHFR=methylene tetrahydrofolate reductase; NA=not available; NAA=N-acetylaspartate; NN=neonatal; NS=not significant; OA=optic atrophy; OMA=oculomotor apraxia; OMIM=Online Mendelian Inheritance in Man; PM=pigmentary maculopathy; Pt=patient; RD=remethylation defect; RP=retinitis pigmentosa; tHcy=plasma total homocysteine; THF=tetrahydrofolate. ER -