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We observed that biobank samples (frozen within 3-17 hours) and fast-frozen in-house samples (within 1 hour) showed slight variations in metabolite levels

The recognition of LeschNyhan syndrome as an inborn error of purine metabolism

Overall, these findings indicate that reductions in GPx3 abundance trends with disease severity with stage 1 having the highest mean levels of GPx3 (1.99 g/ml 0.73 g/ml) and the highest K1/U1 ratio (0.86), followed by the stage 2 with a mean of 1.2 g/ml 0.54 g/ml and average K2/U2 ratio of 0.67, with the most severe form of konzo, stage 3, displaying the largest reduction in average protein abundance (mean: 1.15 g/ml 0.58 g/ml) and the lowest K3/U3 ratio of 0.59 (Supplementary Data 1)

The remaining amounts are found in mitochondria (1015%) and the endoplasmic reticulum