METHODS: Fifty babies were enrolled: 25 with DDH and 25 age-matched non-DDH healthy controls (HC group). We collected plasma samples, laboratory parameters and conducted untargeted metabolomics profiling.
RESULTS: There are many differential metabolites among patients with DDH, including 4-β-hydroxymethyl-4-α-methyl-5-α-cholest-7-en-3-beta-ol, β-cryptoxanthin, α-tocopherol, taurocholic acid, glycocholic acid, 2-(3,4-dihydroxybenzoyloxy)-4,6-dihydroxybenzoate, arabinosylhypoxanthine, leucyl-hydroxyproline, hypoxanthine. The main differential metabolic pathways focused on primary bile acid biosynthesis, arginine and proline metabolism, phenylalanine metabolism, histidine metabolism, purine metabolism.
CONCLUSIONS: To our knowledge, this is the first report of metabolomics profile in babies with DHH. By combining the α-tocopherol and taurocholic acid, we could achieve the differential diagnosis of DDH.
方法:纳入50名婴儿:25名DDH和25名年龄匹配的非DDH健康对照(HC组)。我们采集了血浆样本,实验室参数和进行非靶向代谢组学分析。
结果:DDH患者中存在许多不同的代谢物,包括4-β-羟甲基-4-α-甲基-5-α-胆-7-烯-3-β-醇,β-隐黄质,α-生育酚,牛磺胆酸,甘胆酸,2-(3,4-二羟基苯甲酰氧基)-4,6-二羟基苯甲酸酯,阿拉伯糖基次黄嘌呤,亮氨酰-羟脯氨酸,次黄嘌呤.主要的差异代谢途径集中在初级胆汁酸生物合成,精氨酸和脯氨酸代谢,苯丙氨酸代谢,组氨酸代谢,嘌呤代谢。
结论:据我们所知,这是DHH婴儿代谢组学概况的第一份报告.通过结合α-生育酚和牛磺胆酸,我们可以实现DDH的鉴别诊断。