L-Glyceric Aciduria

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Abstract
Four patients (three of them sibs) with recurrent calcium oxalate kidney stones excreted urinary oxalic acid and also an organic acid absent from normal urine and shown to be L-glyceric acid. The enzyme defect of this newly identified inborn error of metabolism was found in leukocyte preparations to be that of D-glyceric dehydrogenase, which catalyzes interconversion of hydroxypyruvate and D-glycerate. Excessive synthesis and excretion of oxalate in this disease presumably results from the identity of D-glyceric dehydrogenase and glyoxylate reductase. L-glyceric aciduria appears to be transmitted as an autosomal trait that causes disease only when homozygous. The presence of normal serine metabolism in these patients indicates that this amino acid is predominantly synthesized by the phosphorylated rather than the nonphosphorylated pathway in man. It is suggested that primary hyperoxaluria be reclassified: Type I, glycolic aciduria (defect of 2-oxo-glutarate: glyoxylate carboligase); and Type II, L-glyceric aciduria (defect of D-glyceric dehydrogenase).