Table 1.

Summary of illustrated samples

Sample	Pathway	Genes	Variants	Rare and damaging
3905	Glycolysis/gluconeogenesis	89	32	ALDOB p.I177L
3923	Purine metabolism	21	9	XDH p.R1296W
3890	Fatty acid beta oxidation	17	4	SLC22A5 p.V488I
3952	Bile acid	79	33	None
3926	BCAA metabolism, fatty acid, glycolysis	60	22	None
3923	BCAA metabolism, fatty acid, glycolysis	60	21	MAPK8IP1 p.D386E, MC4R p.I1251L
3891	BCAA metabolism, fatty acid	60	26	None
3902	BCAA metabolism, fatty acid, glycolysis	60	7	THADA p.E1741K, CLPS p.R55H
3917	Bile acid	79	33	TTC37 p.L1505S
3937	BCAA metabolism, fatty acid, glycolysis	60	26	LDLR p.P526H, FN3K p.H146R, PASK p.P1249L

The column labeled “Pathway” represents the metabolic pathway identified by the nontargeted metabolomics. The column labeled “Genes” represents the number of genes belonging to the metabolic pathway. The column labeled “Variants” represents the number of nonsynonymous coding variants identified by the bioinformatics analysis within the genes selected for the pathway. The column labeled “Rare and damaging” represent variants with a minor allele frequency (MAF) <0.5 and considered damaging by two of three functional predication programs (SIFT, PolyPhen-2, and MutationTaster).