A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2

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Abstract
Primary hyperoxaluria type 2 (PH2) is a rare monogenic genetic disorder with an autosomal recessive pattern of inheritance. The disease is caused by mutations in the GRHPR gene encoding the glyoxylate/hydroxypyruvate reductase enzyme [2,12]. The high urinary excretion of oxalate and L-glycerate is a characteristic biochemical feature of PH2. Pathologically, the increased plasma and urinary oxalate leads to calcium oxalate supersaturation in the collecting ducts, which causes progressive renal deposition of calcium oxalate in the kidney, in the form of urolithiasis and/or nephrocalcinosis. In severe cases, this occasionally leads to renal failure and/or systemic oxalosis.