Fig. 4: Inactivating mutations of the BCKDHA gene, observed in maple syrup urine disease patients, generate a metabolic profile resembling diabetic ketoacidosis. | Communications Medicine

Fig. 4: Inactivating mutations of the BCKDHA gene, observed in maple syrup urine disease patients, generate a metabolic profile resembling diabetic ketoacidosis.

From: Altered branched chain ketoacids underlie shared metabolic phenotypes in type 1 diabetes and maple syrup urine disease

Fig. 4: Inactivating mutations of the BCKDHA gene, observed in maple syrup urine disease patients, generate a metabolic profile resembling diabetic ketoacidosis.

A Workflow for the collection and metabolomics analysis of whole blood from controls and patients with MSUD. B Partial least-squares discriminant analysis (PLS-DA). C Variable importance plot with the metabolites that contributed most to the separation between groups in the PLS-DA. D Heat map with hierarchical clustering of the top 50 metabolomic features by t-test. Acyl-carnitines were bolded, and branched-chain amino acids and their associated ketoacids were bolded in green. E Violin plots for branched-chain amino acids and their associated ketoacids. F Violin plots for several short-chain acyl-carnitines.

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