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Reduced hepatic glyoxylate reductase activity

MedGen UID:
1053899
•Concept ID:
CN377470
•
Finding
Synonym: Reduced hepatic hydroxypyruvate reductase activity
 
HPO: HP:6000638

Definition

Activity of glyoxylate reductase/hydroxypyruvate reductase (GRHPR; EC 1.1.1.79) in liver below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced hepatic glyoxylate reductase activity

Conditions with this feature

Primary hyperoxaluria, type II
MedGen UID:
120616
•Concept ID:
C0268165
•
Disease or Syndrome
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.
See: Condition Record
Primary hyperoxaluria, type II

Recent clinical studies

Clinical prediction guides

Promoter rearrangements cause species-specific hepatic regulation of the glyoxylate reductase/hydroxypyruvate reductase gene by the peroxisome proliferator-activated receptor alpha.
Genolet R, Kersten S, Braissant O, Mandard S, Tan NS, Bucher P, Desvergne B, Michalik L, Wahli W
J Biol Chem 2005 Jun 24;280(25):24143-52. Epub 2005 Apr 19 doi: 10.1074/jbc.M502649200. PMID: 15840574

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