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Nephrol Dial Transplant (2001) 16: 1697-1699
© 2001 European Renal Association-European Dialysis and Transplant Association

Case Report

Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed?

Gill Rumsby1,, Abhishek Sharma2, David P. Cregeen1 and Laurie R. Solomon2

1 Department of Chemical Pathology, UCL Hospitals, London and 2 Department of Renal Medicine, Royal Preston Hospital, Sharoe Green Lane North, Preston, UK

Keywords: primary hyperoxaluria type 2; L-glycericaciduria; glyoxylate reductase; hydroxypyruvate reductase; oxalate



   Introduction
 
The primary hyperoxalurias (PH) are inherited disorders of endogenous oxalate overproduction. Type 1 (PH1) is caused by deficiency of hepatic peroxisomal alanine: glyoxylate aminotransferase (AGT) [1] and type 2 (PH2) by glyoxylate reductase (GR) deficiency [2]. The differential diagnosis formerly relied on the finding of hyperglycolic aciduria in PH1 and L-glycericaciduria in PH2, but it is now known that approximately one third of PH1 patients have urine glycolate within the reference range [3] and that raised urinary glycolate may occur in patients without PH1 [4]. There is less information about PH2 and it has been believed that the absence of L-glycericaciduria excluded the diagnosis of PH2.

In PH2 glyoxylate and . . . [Full Text of this Article]



   Case
 
Liver enzyme analysis
Family study


   Discussion
 


   Acknowledgments
 


   Notes
 


   References
 

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