A study on the characteristics of blood amino acid and acylcarnitine profiles in children with unexplained intellectual disabilities / 中国医师杂志

ABSTRACT

Objective:To explore the characteristics of blood amino acid and acylcarnitine profiles in children with unexplained generalized developmental delay (GDD)/intellectual disability (ID), and provide useful exploration for their early clinical identification.Methods:A total of 1 087 children with unexplained GDD/ID and 100 children with normal development who visited the Department of Pediatrics at Xiangya Hospital, Central South University from October 2015 to January 2021 were included as the study subjects. High performance liquid chromatography tandem mass spectrometry was used to detect 107 amino acids, carnitine, and base carnitine in dry blood filter paper. Unsupervised principal component analysis (PCA) was used to observe differences in metabolic profiles among different groups. Orthogonal partial least squares discriminant analysis (OLPS-DA) was used to distinguish inter group differences between different groups. Candidate differential metabolites were screened using VIP>1.0 and P<0.05 as criteria. Results:The GDD group screened 28 differential metabolites of blood amino acids and acylcarnitine, while the ID group screened 27 differential metabolites of blood amino acids and acylcarnitine, mainly involving pathways such as arginine biosynthesis, histone metabolism, arginine and proline metabolism.Conclusions:Differential metabolites such as glutamine in whole blood are of great significance for early identification of GDD/ID.