A study of urinary metabolites in patients with dicarboxylic aciduria for differential diagnosis
A study of urinary metabolites in patients with dicarboxylic aciduria for differential diagnosis
复制标题
二羧酸尿症患者尿液代谢物的鉴别诊断研究
DOI：
10.1111/j.1442-200x.1994.tb03149.x
复制
发表时间：
1994
影响因子：
1.4
通讯作者：
T. Orii
中科院分区：
文献类型：
--
作者：
N. Shimizu;S. Yamaguchi;T. Orii
二羧酸尿症(DCA-Uria)是气相色谱/质谱仪(GC/MS)筛查有机酸血症中比较常见的一种。相当数量的DCA-URIA患者参与了线粒体和过氧化体脂肪酸β氧化的紊乱。采用有机酸GC/MS分析、肉碱测定、酰基肉碱快速原子轰击/质谱仪(FAB/MS)和酰甘氨酸稳定同位素稀释法相结合的方法对DCA-Uria进行鉴别诊断。对46例不同病因的DCA-URIA患者尿液代谢产物的相对分布进行了检测，其中包括儿童生理性酮症、丙酸代谢紊乱、戊二酸尿II型、Zellweger综合征和临床诊断为Reye综合征的患者。
Dicarboxylic aciduria (DCA‐uria) is a relatively common finding in the screening of organic acidemias by gas chromatography/mass spectrometry (GC/MS). A considerable number of patients with DCA‐uria are involved in disturbances of mitochondrial and peroxisomal fatty acid β‐oxidation. The differential diagnosis of DCA‐uria was investigated using a combination of organic acid analysis by GC/MS, carnitine determination, acylcarnitines by fast atom bombardment/mass spectrometry (FAB/MS) and acylglycines by stable‐isotope dilution analysis. The relative distribution of urinary metabolites was examined in 46 patients with DCA‐uria of different origins, including physiological ketosis of childhood, disorders of propionic acid metabolism, glutaric aciduria type II, Zellweger syndrome and patients who were clinically diagnosed as having Reye syndrome.
Nobuo Shimizu：“五名日本晚发型戊二酸尿症 II 型患者代谢物排泄的质谱分析”生物质谱法。
DOI：
--
发表时间：
--
期刊：
影响因子：
--
作者：
通讯作者：
--