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Primary hyperoxaluria type 2

Disease definition

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.

ORPHA:93599

  • Synonym(s):
    • D-glycerate dehydrogenase deficiency
    • L-glyceric aciduria
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E74.8
  • OMIM: 260000
  • UMLS: C0268165
  • MeSH: -
  • GARD: 2836
  • MedDRA: -

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