Reduced brain creatine in gyrate atrophy of the choroid and retina with hyperornithinemia
Reduced brain creatine in gyrate atrophy of the choroid and retina with hyperornithinemia
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DOI：
10.1212/wnl.53.2.303
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发表时间：
1999-07-22
期刊：
影响因子：
9.9
通讯作者：
Simell, O
中科院分区：
文献类型：
--
作者：
Näntö-Salonen, K;Komu, M;Simell, O
目的：分析高鸟氨酸血症(GA)脉络膜视网膜回缩患者体内脑肌酸(Cr)含量。背景：GA是由鸟氨酸-β-氨基转移酶活性遗传缺陷引起的。患者在中年时丧失视力，并出现II型骨骼肌纤维的选择性萎缩。正如MRS显示的那样，患者的骨骼肌减少了高能磷酸铬的储存。这些患者脑内轻微的结构和电生理异常也提示中枢神经系统可能受到影响。方法：作者采集了22例健康对照组和20例GA患者的基底节质子磁共振波谱。9名患者接受补充肌酸或其前体，1名儿童接受精氨酸限制饮食以使血浆鸟氨酸浓度正常化。计算N-乙酰天冬氨酸(NAA)与肌酸(Cr)、胆碱(Cho)、胆碱与肌酸(Cho)的比值以及NAA、Cho、Cr值与组织水的比值。结果：初发组、治疗组和对照组的NAA/Cr(Cho/Cr值)分别为3.3±/-0.4、2.0+/-0.4和1.5+/-0.7(1.9+/-0.3、1.3+/-0.4和0.9+/-0.2)，表明初治GA患者血中的铬含量明显下降，经治疗后部分纠正(p<；0.0001)。NAA/CHO在三组中均相似。未经治疗的患者的CR/水仅为46%，而经治疗的患者已增至对照组的75%(p<；0.0001)。结论：GA的高鸟氨酸血症相关的铬缺乏也影响了中枢神经系统，进一步支持了铬缺乏对视网膜也有致病作用的可能性。通过补充铬和限制精氨酸的饮食，这种缺乏得到了部分纠正。
Objective: To analyze in vivo brain creatine (Cr) content in gyrate atrophy of the choroid and retina with hyperornithinemia (GA). Background: GA is caused by inherited deficiency of ornithine-delta-aminotransferase activity. Patients lose their vision by middle age and develop selective atrophy of type II skeletal muscle fibers. As demonstrated by MRS, the patients' skeletal muscles have diminished stores of high-energy Cr phosphate. Minor structural and electrophysiologic abnormalities in the brain of these patients also imply that the CNS may be affected, Methods: The authors acquired proton MR spectra of the basal ganglia of 22 healthy control subjects and 20 GA patients. Nine patients received supplementary Cr or its precursors, and one child was on an arginine-restricted diet to normalize plasma ornithine concentration. The ratios of N-acetylaspartate (NAA) to Cr, NAA to choline (Cho), and Cho to Cr, and the ratios of NAA, Cho, and Cr to tissue water were calculated. Results: NAA/Cr (Cho/Cr) in the untreated and treated patients and control subjects were (mean +/- SD) 3.3 +/- 0.4, 2.0 +/- 0.4, and 1.5 +/- 0.7 (1.9 +/- 0.3, 1.3 +/- 0.4, and 0.9 +/- 0.2), indicating that Cr content in untreated GA patients was proportionally and markedly diminished, and partially corrected by therapy (p < 0.0001). NAA/Cho was similar in all three groups. Cr/water in the untreated patients was only 46%, and increased to 75% of the control ratios in the treated patients (p < 0.0001). Conclusions: Hyperornithinemia-associated Cr deficiency in GA also affects the CNS, further supporting the possibility that Cr deficiency also has a pathogenetic role in the retina. The deficiency was partially corrected by Cr supplementation and an arginine-restricted diet.