Abstract

Primary hyperoxaluria is a rare, inherited metabolic disease caused by enzymatic defect of glyoxilate carboligase or D-glyceric dehydrogenase. The disease leads to overproduction of oxalic acid and deposition of calcium oxalate crystals in organs and tissues (oxalosis). In this report, we describe a case of primary hyperoxaluria in a 26-year-old female. We wish to report the main features of the disorder and to underline the severe bony lesions.

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