Abnormal Carbohydrate Metabolism in Cerebrospinal Fluid in Rett Syndrome
Abnormal Carbohydrate Metabolism in Cerebrospinal Fluid in Rett Syndrome
复制标题
雷特综合征脑脊液碳水化合物代谢异常
DOI：
10.1177/088307389400900105
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发表时间：
1994
影响因子：
1.9
通讯作者：
H. Kato
中科院分区：
文献类型：
--
作者：
T. Matsuishi;F. Urabe;A. Percy;H. Komori;Y. Yamashita;Rebecca S. Schultz;Y. Ohtani;N. Kuriya;H. Kato
我们通过高效液相色谱法分析了Rett综合征患者（n = 27;平均年龄，5.7 ± 3.4岁）和年龄匹配的女性对照组（n = 12;平均年龄，7.0 ± 3.3岁）脑脊液中的乳酸、丙酮酸和柠檬酸循环中间产物。与对照组相比，Rett综合征患者的乳酸、丙酮酸、α-酮戊二酸和苹果酸显著升高。乳酸/丙酮酸比率没有差异。另一方面，Rett综合征患者的脑脊液柠檬酸盐、cisaconitate、琥珀酸盐、富马酸盐和草酰乙酸盐与对照组无显著差异。我们还评估了这些酸与临床症状和体征之间的相关性，包括临床分期、癫痫发作、药物（抗惊厥药或纳洛酮）、发育商、自虐和过度换气或呼吸暂停或两者兼而有之。所有这些酸的浓度没有显着差异，与临床分期。乳酸升高与呼吸暂停显著相关。乳酸盐和丙酮酸盐升高与过度换气或两种呼吸异常显著相关。我们对Rett综合征患者样本的观察使我们推测Rett综合征患者可能存在碳水化合物代谢缺陷。线粒体还原型烟酰胺腺嘌呤二核苷酸连接底物升高提示Rett综合征患者脑中可能存在还原型烟酰胺腺嘌呤二核苷酸泛醌氧化还原酶缺陷。（J Child Neurol 1994;9：26-30）。
We analyzed lactate, pyruvate, and citric acid cycle intermediates in cerebrospinal fluid by high-performance liquid chromatography in Rett syndrome patients (n = 27; mean age, 5.7 ± 3.4 years) and age-matched female controls (n = 12; mean age, 7.0 ± 3.3 years). The lactate, pyruvate, α-ketoglutarate, and malate were significantly elevated in Rett syndrome compared to the controls. The lactate/pyruvate ratio was not different. On the other hand, cerebrospinal fluid citrate, cisaconitate, succinate, fumarate, and oxaloacetate were not significantly different in Rett syndrome patients than in the controls. We also evaluated the correlation between these acids and clinical symptoms and signs, including clinical stage, seizures, medications (anticonvulsants or naltrexone), developmental quotient, self-abuse, and hyperventilation or apnea or both. The concentrations of all these acids did not differ significantly with clinical stage. Lactate elevation significantly correlated with apnea. Lactate and pyruvate elevation significantly correlated with hyperventilation or with both breathing abnormalities. Our observations in this sample of patients with Rett syndrome led us to speculate that patients with the Rett syndrome may have defective carbohydrate metabolism. Elevated mitochondrial reduced nicotinamide-adenine dinucleotide-linked substrates suggest that reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase may be deficient in the brain in Rett syndrome patients. (J Child Neurol 1994;9:26-30).