The metabolic error in primary hyperoxaluria.

Abstract

The clinical features of primary hyperoxaluria are recurrent renal calculi and nephrocalcinosis in the young. Inheritance of this condition as a Mendelian recessive characteristic prompts search for a defective enzyme in patients with this disease. The metabolism of oxalate and glyoxylate is reviewed briefly, together with previous metabolic observations on patients with hyperoxaluria. The detailed results are given of the recovery of Cl4 as expired carbon dioxide and urinary oxalate, glyoxylate, glycollate, glycine, and hippurate after intravenous injection of carboxyl-labelled glycollate or glyoxylate. There was less Cl4 in carbon dioxide, glycine, and hippurate from the patients than from normal subjects or parents of patients. These results suggest defective transamination of glyoxylate to glycine in patients with primary hyperoxaluria. No support for this belief has come from preliminary observations in vitro with blood cells and liver tissue from patients. No satisfactory treatment of this condition has been found.