Primary hyperoxaluria type 2

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Name:
Primary hyperoxaluria type 2
Description:
Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.
ORPHAcode:
93599
Synonyms:
D-glycerate dehydrogenase deficiency
L-glyceric aciduria
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14