Raw metabolomics data from patients without TKT-related syndromes

This study utilized non-targeted metabolomics to conduct a systematic analysis of metabolite expression in peripheral blood serum from individuals with different genotypes of TKT deficiency syndrome, an autosomal recessive disorder (heterozygous carriers and patients with compound heterozygous mutations). TKT deficiency syndrome is primarily caused by mutations in the TKT gene, leading to functional abnormalities in the transketolase protein it encodes. This disrupts the pentose phosphate pathway, resulting in systemic metabolic disorders. Current literature reports that the disease is typically characterized by short stature, developmental delay, and congenital heart defects, with significant clinical heterogeneity.The study included four plasma samples from the same family. By comparing metabolite expression differences between the two groups, the study aimed to explore the clinical phenotypic spectrum of TKT deficiency, for which detailed reports remain scarce to date. In-depth molecular and etiological research will help comprehensively characterize the syndrome associated with TKT deficiency and aid in the discovery of additional pathogenic alleles. The combination of non-targeted metabolomics analysis with genomic data can reveal underlying disease mechanisms, establish disease-specific metabolic signatures, and improve the diagnostic accuracy of this inherited metabolic disorder.