GTR Home > Conditions/Phenotypes > Primary hyperoxaluria, type II

Disease characteristics

Excerpted from the GeneReview: Primary Hyperoxaluria Type 2
Primary hyperoxaluria type 2 (PH2), caused by deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GR/HPR), is characterized by recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis/urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), and end-stage renal disease (ESRD). After ESRD, oxalosis (widespread tissue deposition of calcium oxalate) usually develops. Symptom onset is typically in childhood.

Available tests

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Associated genes

Clinical features

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  • Hyperoxaluria
  • Aminoaciduria
  • Calcium oxalate nephrolithiasis

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