In this study, our scientists measured 91 metabolites using mass spectrometry and compared the levels of each metabolite in people with Down syndrome to those without. They found 29 metabolites whose levels were significantly altered in people with Down syndrome. The metabolite that was most significantly elevated was quinolinic acid…..

Red blood cells are the most common cell type in the body, and their contents mirrors systemic metabolic processes. Here our scientists provide the first mass spectrometry–based relative and absolute quantitative metabolomic description of red blood cells from people with Down syndrome. Their results show that red blood cell metabolism is widely deregulated by trisomy 21…..