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Fig. 4 | Human Genomics

Fig. 4

From: Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder

Fig. 4

Metabolomic analysis of Aldh1l2+/+, Aldh1l2+/−, and Aldh1l2−/− male mice links metabolic changes to ALDH1L2 function. a Proposed sequence of linked metabolic nodes downstream of ALDH1L2 catalysis. b The ALDH1L2 loss causes NADPH decrease; schematic depicts the mechanism of associated decrease in antioxidants, GSH and ascorbate. c–e Levels of γ-glutamyl cycle metabolites and ascorbate are diminished while levels of dehydroascorbate are increased in Aldh1l2 KO mice. f Cystine is strongly elevated in plasma of Aldh1l2 KO mice. g Coenzyme A biosynthesis and pathways downstream of the coenzyme affected by the Aldh1l2 loss. h–l Intermediates of coenzyme A biosynthesis, TCA cycle metabolites, bile acids, and ATP are decreased while methylmalonic acid (MMA) is elevated in Aldh1l2 KO mice

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Human Genomics

ISSN: 1479-7364