Cri Du Chat (CDC) syndrome is a rare genetic condition caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5. A high-pitched cry that sounds like that of a cat, dysmorphic characteristics, and cytogenetic methods are often used for diagnosing the syndrome. In this study, we applied GC–MS analysis for determining organic acids in urine from 17 control volunteers without CDC syndrome, and from 16 individuals with the CDC syndrome in order to determine the profile of organic acids and biochemical pathways alterations resulting from this genetic condition. First, performing multivariate data analysis selected the best method for extracting organic acids with greater signal intensities and good reproducibility. After selection, multivariate (PLS-DA) and univariate (Mann-Whitney test) data analysis discriminated the metabolites responsible for separation between groups. Nine organic acid metabolites had values of VIP ≥ 1.0 and p-values ≤ 0.05, with highest intensities in the samples from CDC individuals, indicating the strongest discriminative power (tricarballylic acid, indoleacetic acid, anthranilic acid, 4-hydroxyphenylacetic acid, 4-hydroxybenzoic acid, 4-hydroxyhippuric acid, pantothenic acid, homovanillic acid, and vanillylmandelic acid). These metabolites are involved in several biochemical pathways like in the tyrosine and phenylalanine metabolism, as well as the tryptophan metabolism, which could be associated (i) to some neuropsychiatric alterations commonly observed in CDC individuals, (ii) to exogenous compounds related to transformation products by intestinal microbial, and (iii) to a possible deficiency in enzyme activity due to the syndrome.

克里斯杜聊天（CDC）综合征是由5号染色体小臂（p臂）上的遗传物质缺失引起的罕见遗传病。听起来像猫的高音哭泣，畸形特征和细胞遗传学方法通常是用于诊断综合征。在这项研究中，我们使用GC-MS分析来确定17名无CDC综合征的对照志愿者和16名患有CDC综合征的个体尿液中的有机酸，以确定该遗传状况导致的有机酸概况和生化途径改变。首先，进行多元数据分析选择了提取具有更高信号强度和良好重现性的有机酸的最佳方法。选择之后，多变量（PLS-DA）和单变量（Mann-Whitney检验）数据分析可区分负责组间分离的代谢物。9种有机酸代谢产物的VIP值≥1.0，且p值≤0.05，在CDC个体的样品中具有最高强度，表明最强的鉴别能力（三碳烯酸，吲哚乙酸，邻氨基苯甲酸，4-羟基苯基乙酸，4-羟基苯甲酸，4-羟基马尿酸，泛酸，高香草酸酸和香草醛酸）。这些代谢物涉及酪氨酸和苯丙氨酸代谢以及色氨酸代谢等几种生化途径，这些代谢途径可能与（i）CDC个体中常见的一些神经精神病学改变有关，（ii）与转化产物有关的外源性化合物。 （iii）因综合症而导致酶活性可能不足。