Fig. 4

The scheme showed the probably metabolic pathways in patient with PH2 and AGXT2 deficiency. The red dots indicate deficient enzymes, red dashed arrows point to the deficiency of metabolic pathway, thick blue arrows represent the overproduction of enzymes and red ends of the blue arrows point to the overproduced metabolite. Abbreviations: DAO – D-aminoacid oxidase; AGXT1 – alanine-glyoxylate aminotransferase1; GO – glycolate oxidase; LD – lactate dehydrogenase; HOGA - 4-hydroxy-2-oxoglutarate aldolase; AGXT2 – alanine-glyoxylate aminotransferase 2; ABAT – aminobutyrate-2-oxoglutarate; MMSADH – methylmalonyl semialdehyde dehydrogenase; MMM – methylmalonyl-CoA mutase; GRHPR - glyoxylate reductase-hydroxypyruvate reductase; PC – propionylcarboxylase