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Primary hyperoxaluria

Orpha number ORPHA416
Synonym(s) -
Prevalence Unknown
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10
  • E74.8
OMIM
UMLS
  • C0020500
MeSH
  • D006959
MedDRA
  • 10020703
SNOMED CT -

Summary

Primary hyperoxaluria, or oxalosis, is a rare metabolic disorder transmitted as an autosomal recessive disease, including both type 1, the most frequent, and type 2, extremely rare. Hyperoxaluria type 1 (see this term) is due to a defect of the peroxysomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Hyperoxaluria type 2 (see this term) is extremely rare and is due to glycerate dehydrogenase deficiency.

Expert reviewer(s)

  • Dr Patrick NIAUDET
Last update: March 2004

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