TMLHE and methylmalonic acidemia: The number of significantly altered analytes related to the diagnosis ranged from two metabolites in patients with trimethyllysine hydroxylase epsilon (TMLHE; OMIM 300872) deficiency, i.e., decreased deoxycarnitine (γ-butyrobetaine) and increased N6-trimethyllysine (Fig. S2), to as many as 20 significant analyte perturbations that could be mapped directly up/downstream of the enzymatic defect in patients with methylmalonic acidemia (MMA; OMIM 25100; Figs. 1d and e; 2).