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Primary hyperoxaluria

ORPHA416
Synonym(s) -
Prevalence 1-9 / 1 000 000
Inheritance Autosomal recessive
Age of onset All ages
ICD-10
  • E74.8
OMIM
UMLS
  • C0020500
MeSH
  • D006959
MedDRA
  • 10020703

Summary

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).

Expert reviewer(s)

  • Pr Pierre COCHAT

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Detailed information

Summary information
Review article
  • EN (2013)Patient Inform
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