[MIM 260 000]

(glyceric aciduria, hyperglyceraturia)

Very rare form of primary hyperoxaluria (10 %). Autosomal recessive transmission of a mutation of the GRHPR gene (9p13.2)  causing a deficiency in D-glycerate dehydrogenase/glyoxylate reductase producing hyperoxaluria with increased urinary excretion of L-glycerate. From a biochemical point of view, D-glycerate dehydrogenase deficiency results in the accumulation of its substrate, hydroxypyruvate, transformed into L-glycerate by L-lactate dehydrogenase. In turn, glyoxylate reductase deficiency prevents the conversion of glyoxylate glycolate. This glyoxylate is converted into oxalate by L-lactate dehydrogenase. The accumulation of oxalates in the urinary tract causes the formation of lithiasis and nephrocalcinosis

The long-term prognosis is better than for primary hyperoxaluria type I.

In case of end stage renal disease, kidney transplantation is useful but the risk of recurrence is important.

Anesthetic implications: 

urinary lithiasis; mild renal impairment with partially preserved diuresis.

References : 

Updated: March 2019