As we have previously discussed for p.G170R [6], the low kinetic stability of these mutants in the apo-form may have important implications for PH1 pathogenesis, since it is likely that a significant fraction of AGT may transiently exist as apo-protein in vivo, and thus, it might be susceptible to intracellular irreversible alterations such as mitochondrial import, protein aggregation and degradation. The gene discussed is AOPEP; the disease is primary hyperoxaluria type 1.