Figure 5.

Biochemical Pathways Affected by CA-VA Deficiency

CA-VA deficiency is indicated by the horizontal red bar (bottom right). Dotted lines link CA-VA-mediated bicarbonate production and intramitochondrial donation to the bicarbonate-dependent carboxylases; the affected enzyme deficiencies are denoted with red circles. Enzymes: CPS1, carbamoylphosphate synthetase I; PC, pyruvate carboxylase; PCC, propionyl CoA carboxylase; 3MCC, 3-methylcrotonyl CoA carboxylase. Metabolites: SUC, succinyl CoA; αKG, α-ketoglutarate; OAA, oxaloacetate; Glu, glutamate; Gln, glutamine; Sac, saccharopine; Lys, lysine; ASP, aspartate; PEP, phosphoenolpyruvate; PYR, pyruvate; LAC, lactate; AcCoA, acetyl CoA; AS, argininosuccinate; 3MGCoA, 3-methylglutaconyl CoA; 3MCCoA, 3-methylcrotonyl CoA.