[Overview: basic research for gene therapy in Japan].

Type I primary hyperoxaluria is an uncommon disease related to alanine glyoxylate aminotransferase (AGT) deficiency, an exclusively hepatic enzyme. AGT deficiency leads to an overproduction of oxalate in the liver and consequent hyperoxalemia and massive hyperoxaluria with renal failure. The diagnosis is confirmed by needle biopsy of the kidney showing the exact nature of the enzyme deficiency. When terminal renal failure has developed there are two therapeutic possibilities: kidney graft or a double liver-kidney graft. Kidney graft alone is often insufficient and carries the risk of recurrent disease in the graft since the liver disorder has not been corrected. Inversely, combined liver-kidney graft can not only replace the destroyed kidneys but also correct the metabolic disorder through the effect of the AGT in the donor liver. Although this approach may be successful, it is a very aggressive procedure with high mortality.

Genetic Therapy↗