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Primary hyperoxaluria

Disease definition

Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms).

ORPHA:416

  • Synonym(s): -
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E74.8
  • OMIM: 259900  260000  613616
  • UMLS: C0020500  C0020501
  • MeSH: D006959
  • GARD: -
  • MedDRA: 10020703

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