Primary hyperoxaluria: the effect of long-term treatment

  • L. H. Smith
Conference paper
Part of the Fortschritte der Urologie und Nephrologie book series (2824, volume 25)


Primary hyperoxaluria is an inherited syndrome comprised of two types based on specific inborn errors of metabolism. Type I (glycolic aciduria) has a deficiency of the thiamine pyrophosphate-dependent 2-oxoglutarate: glyoxylate carboligase enzyme which is involved in the synergistic decarboxylation of glyoxylate and 2-oxoglutarate to α-hydroxy-β-ketoadipate (1). This defect causes an accumulation of glyoxylate with increased endogenous production of oxalate, hyperoxaluria, glycolic aciduria and glyoxylic aciduria. Most patients with primary hyperoxaluria have this defect. Type II (L-glyceric aciduria) is associated with a deficiency of D-glyceric dehydrogenase, an enzyme involved in the gluconeogenic pathway of serine metabolism (2). This enzyme catalyzes the reduction of hydroxypyruvate to D-glycerate, and in its absence, there is an accumulation of hydroxypyruvate. In the presence of lactic dehydrogenase and nicotinamide adenine dinucleotide dehydrogenase (NADH), the hydroxypyruvate is reduced to L-glycerate and excreted into the urine. The mechanism by which endogenous oxalate production is increased by this enzyme defect is not known with certainty. Studies reported by Williams and Smith of human erythrocytes and leukocytes have shown that hydroxypyruvate increases oxalate synthesis and decreases glycolate synthesis from glyoxylate believed to be caused by the reduction of lactic dehydrogenase-NADH (3). These observations suggest that the coupled oxidation-reduction of glyoxylate and hydroxypyruvate by their common reactivity with lactic dehydrogenase produce the increased oxalate formation as an indirect result. These patients have hyperoxaluria and L-glyceric aciduria with decreased urinary excretion of glycolate and glyoxylate.


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Copyright information

© Dr. Dietrich Steinkopff Verlag, GmbH & Co. KG., Darmstadt 1987

Authors and Affiliations

  • L. H. Smith
    • 1
  1. 1.Division of Nephrology and Internal MedicineMayo Clinic and Mayo FoundationRochesterUSA

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