Primary hyperoxaluria type 2
Other Names for this Disease
- D-glycerate dehydrogenase deficiency
- Glyceric aciduria
- Glyoxylate reductase/hydroxypyruvate reductase deficiency
- Oxalosis 2
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Primary hyperoxaluria type 2 is characterized by recurrent nephrolithiasis (deposition of calcium oxalate in the kidney and urinary tract), nephrocalcinosis (deposition of calcium oxalate in the kidney tissue), and end-stage renal disease (ESRD). After ESRD, oxalosis (widespread tissue deposition of calcium oxalate) usually develops. Presenting symptoms are typically those associated with the presence of kidney stones, including hematuria, renal colic (a type of abdominal pain caused by kidney stones), or obstruction of the urinary tract. The symptoms of primary hyperoxaluria type 2 are typically less severe than primary hyperoxaluria type 1 and may be limited to kidney stone formation. Symptom onset may occur in childhood or adolescence. End stage renal disease is rarely observed in childhood.
Last updated: 1/3/2013
- Rumsby G. Primary Hyperoxaluria Type 2. GeneReviews. May 2011; http://www.ncbi.nlm.nih.gov/books/NBK2692/. Accessed 1/2/2013.
- Leumann E, Hoppe B. The Primary Hyperoxalurias. JASN. September 1, 2001 ; http://jasn.asnjournals.org/content/12/9/1986.long. Accessed 1/2/2013.