Disease signature enrichment analysis demonstrated that these metabolic changes overlap with several metabolic disorders, including lipoyltransferase 1 deficiency, dihydrolipoamide dehydrogenase deficiency, iminoglycinuria, and dicarboxylic aminoaciduria, highlighting the clinical relevance of these pathways (Fig. 6b). The gene discussed is LIPT1; the disease is pyruvate dehydrogenase E3 deficiency.